SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
130095
dbSNP Id:
rs8802
ExAC:
6:88224164 T / C
gnomAD v2:
6-88224164-T-C
gnomAD v3:
6-87514446-T-C
gnomAD v4:
6-87514446-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87514446T>C , CM000668.2:g.87514446T>C | GRCh38 |
| NC_000006.11:g.88224164T>C , CM000668.1:g.88224164T>C | GRCh37 |
| NC_000006.10:g.88280883T>C | NCBI36 |
| NG_008601.1:g.80572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451155.2:c.1293A>G | ENSP00000389656.2:p.Lys431= | |
| ENST00000493269.2:n.3377A>G | ||
| ENST00000497828.2:n.5552A>G | ||
| ENST00000684790.1:c.*710A>G | ENSP00000509974.1:n.*710A>G | |
| ENST00000685069.1:c.*206A>G | ENSP00000509876.1:n.*206A>G | |
| ENST00000685219.1:n.2105A>G | ||
| ENST00000685336.1:c.*1127A>G | ENSP00000508757.1:n.*1127A>G | |
| ENST00000685376.1:c.*826A>G | ENSP00000508661.1:n.*826A>G | |
| ENST00000685408.1:c.1179A>G | ENSP00000509026.1:p.Lys393= | |
| ENST00000685701.1:c.765A>G | ENSP00000509573.1:p.Lys255= | |
| ENST00000685881.1:c.*206A>G | ENSP00000510572.1:n.*206A>G | |
| ENST00000686142.1:c.*206A>G | ENSP00000510793.1:n.*206A>G | |
| ENST00000686154.1:c.765A>G | ENSP00000508436.1:p.Lys255= | |
| ENST00000686284.1:c.765A>G | ENSP00000510099.1:p.Lys255= | |
| ENST00000686371.1:n.1206A>G | ||
| ENST00000686407.1:c.765A>G | ENSP00000509880.1:p.Lys255= | |
| ENST00000686857.1:c.*620A>G | ENSP00000509934.1:n.*620A>G | |
| ENST00000686988.1:c.1802A>G | ENSP00000508830.1:n.1802A>G | |
| ENST00000687090.1:n.2434A>G | ||
| ENST00000687437.1:c.1794A>G | ENSP00000508968.1:p.Lys598= | |
| ENST00000687579.1:c.*750A>G | ENSP00000510257.1:n.*750A>G | |
| ENST00000687586.1:c.627A>G | ENSP00000508441.1:p.Lys209= | |
| ENST00000687729.1:c.1122A>G | ENSP00000508582.1:p.Lys374= | |
| ENST00000687909.1:c.*1114A>G | ENSP00000508659.1:n.*1114A>G | |
| ENST00000688106.1:c.*206A>G | ENSP00000509529.1:n.*206A>G | |
| ENST00000688391.1:n.2212A>G | ||
| ENST00000688532.1:c.741A>G | ENSP00000510320.1:p.Lys247= | |
| ENST00000688808.1:n.2575A>G | ||
| ENST00000689174.1:c.1179A>G | ENSP00000510542.1:p.Lys393= | |
| ENST00000689206.1:c.765A>G | ENSP00000510495.1:p.Lys255= | |
| ENST00000689561.1:n.2720A>G | ||
| ENST00000689594.1:n.2696A>G | ||
| ENST00000689952.1:c.*1042A>G | ENSP00000508977.1:n.*1042A>G | |
| ENST00000690205.1:c.*1582A>G | ENSP00000508972.1:n.*1582A>G | |
| ENST00000690622.1:c.765A>G | ENSP00000508528.1:p.Lys255= | |
| ENST00000690705.1:c.*620A>G | ENSP00000509923.1:n.*620A>G | |
| ENST00000690884.1:c.*620A>G | ENSP00000509931.1:n.*620A>G | |
| ENST00000691205.1:n.3035A>G | ||
| ENST00000691238.1:c.*826A>G | ENSP00000510094.1:n.*826A>G | |
| ENST00000691533.1:n.3393A>G | ||
| ENST00000691634.1:n.1585A>G | ||
| ENST00000691725.1:c.1704A>G | ENSP00000509453.1:p.Lys568= | |
| ENST00000691815.1:c.*620A>G | ENSP00000509579.1:n.*620A>G | |
| ENST00000692270.1:c.*620A>G | ENSP00000510055.1:n.*620A>G | |
| ENST00000692394.1:c.483A>G | ENSP00000509567.1:p.Lys161= | |
| ENST00000692684.1:c.1179A>G | ENSP00000509712.1:p.Lys393= | |
| ENST00000692843.1:c.*691A>G | ENSP00000509592.1:n.*691A>G | |
| ENST00000693327.1:c.1179A>G | ENSP00000509195.1:p.Lys393= | |
| ENST00000693431.1:c.1179A>G | ENSP00000509147.1:p.Lys393= | |
| ENST00000693605.1:c.*620A>G | ENSP00000510050.1:n.*620A>G | |
| ENST00000369536.10:c.1704A>G MANE Select | ENSP00000358549.5:p.Lys568= | |
| ENST00000369536.9:c.1704A>G | ENSP00000358549.5:p.Lys568= | |
| ENST00000493269.1:n.307A>G | ||
| NM_020320.3:c.1704A>G | NP_064716.2:p.Lys568= | |
| XM_005248735.3:c.1179A>G | XP_005248792.2:p.Lys393= | |
| XM_005248736.3:c.1179A>G | XP_005248793.2:p.Lys393= | |
| XM_005248737.3:c.1179A>G | XP_005248794.2:p.Lys393= | |
| XM_011535947.1:c.1704A>G | XP_011534249.1:p.Lys568= | |
| XM_011535948.1:c.1704A>G | XP_011534250.1:p.Lys568= | |
| XM_011535950.1:c.1179A>G | XP_011534252.1:p.Lys393= | |
| XM_011535951.1:c.1179A>G | XP_011534253.1:p.Lys393= | |
| XM_011535952.1:c.765A>G | XP_011534254.1:p.Lys255= | |
| XM_011535953.1:c.765A>G | XP_011534255.1:p.Lys255= | |
| XM_011535954.1:c.765A>G | XP_011534256.1:p.Lys255= | |
| XM_011535955.1:c.765A>G | XP_011534257.1:p.Lys255= | |
| XR_241848.1:n.1760A>G | ||
| NM_001318785.1:c.1179A>G | NP_001305714.1:p.Lys393= | |
| NM_001350505.1:c.1704A>G | NP_001337434.1:p.Lys568= | |
| NM_001350506.1:c.1179A>G | NP_001337435.1:p.Lys393= | |
| NM_001350507.1:c.1179A>G | NP_001337436.1:p.Lys393= | |
| NM_001350508.1:c.1179A>G | NP_001337437.1:p.Lys393= | |
| NM_001350509.1:c.1179A>G | NP_001337438.1:p.Lys393= | |
| NM_001350510.1:c.1179A>G | NP_001337439.1:p.Lys393= | |
| NM_001350511.1:c.1179A>G | NP_001337440.1:p.Lys393= | |
| NM_020320.4:c.1704A>G | NP_064716.2:p.Lys568= | |
| NR_134857.1:n.1775A>G | ||
| NR_146738.1:n.2047A>G | ||
| NR_146739.1:n.1856A>G | ||
| NR_146740.1:n.2124A>G | ||
| NR_146741.1:n.1786A>G | ||
| NR_146742.1:n.2158A>G | ||
| NR_146743.1:n.1996A>G | ||
| NR_146744.1:n.2135A>G | ||
| NR_146745.1:n.1783A>G | ||
| NR_146746.1:n.2229A>G | ||
| NR_146747.1:n.1562A>G | ||
| NR_146748.1:n.2022A>G | ||
| NR_146749.1:n.1996A>G | ||
| NR_146750.1:n.2120A>G | ||
| NR_146751.1:n.2011A>G | ||
| NR_146752.1:n.2064A>G | ||
| NR_146753.1:n.1916A>G | ||
| NR_146754.1:n.1860A>G | ||
| NR_146755.1:n.2124A>G | ||
| NR_146756.1:n.1790A>G | ||
| NR_146757.1:n.2050A>G | ||
| NR_146758.1:n.1779A>G | ||
| NR_146759.1:n.1779A>G | ||
| XM_017011073.1:c.1179A>G | XP_016866562.1:p.Lys393= | |
| XM_017011074.2:c.1179A>G | XP_016866563.1:p.Lys393= | |
| XM_017011075.2:c.1179A>G | XP_016866564.1:p.Lys393= | |
| XM_017011076.2:c.1179A>G | XP_016866565.1:p.Lys393= | |
| XM_017011077.2:c.1179A>G | XP_016866566.1:p.Lys393= | |
| XM_017011078.2:c.1179A>G | XP_016866567.1:p.Lys393= | |
| XM_024446494.1:c.1179A>G | XP_024302262.1:p.Lys393= | |
| NM_020320.5:c.1704A>G MANE Select | NP_064716.2:p.Lys568= | |
| NM_001318785.2:c.1179A>G | NP_001305714.1:p.Lys393= | |
| NM_001350505.2:c.1704A>G | NP_001337434.1:p.Lys568= | |
| NM_001350506.2:c.1179A>G | NP_001337435.1:p.Lys393= | |
| NM_001350507.2:c.1179A>G | NP_001337436.1:p.Lys393= | |
| NM_001350508.2:c.1179A>G | NP_001337437.1:p.Lys393= | |
| NM_001350509.2:c.1179A>G | NP_001337438.1:p.Lys393= | |
| NM_001350510.2:c.1179A>G | NP_001337439.1:p.Lys393= | |
| NM_001350511.2:c.1179A>G | NP_001337440.1:p.Lys393= | |
| NR_134857.2:n.1730A>G | ||
| NR_146738.2:n.2002A>G | ||
| NR_146739.2:n.1811A>G | ||
| NR_146740.2:n.2079A>G | ||
| NR_146741.2:n.1741A>G | ||
| NR_146742.2:n.2113A>G | ||
| NR_146743.2:n.1951A>G | ||
| NR_146744.2:n.2090A>G | ||
| NR_146745.2:n.1738A>G | ||
| NR_146746.2:n.2184A>G | ||
| NR_146747.2:n.1517A>G | ||
| NR_146748.2:n.1977A>G | ||
| NR_146749.2:n.1951A>G | ||
| NR_146750.2:n.2075A>G | ||
| NR_146751.2:n.1966A>G | ||
| NR_146752.2:n.2019A>G | ||
| NR_146753.2:n.1871A>G | ||
| NR_146754.2:n.1815A>G | ||
| NR_146755.2:n.2079A>G | ||
| NR_146756.2:n.1745A>G | ||
| NR_146757.2:n.2005A>G | ||
| NR_146758.2:n.1734A>G | ||
| NR_146759.2:n.1734A>G |