Linked Data
ClinVar Variation Id:
1124668
ClinVar RCV Id:
RCV001456139
dbSNP Id:
rs780993032
ExAC:
6:88224225 A / G
gnomAD v2:
6-88224225-A-G
gnomAD v3:
6-87514507-A-G
gnomAD v4:
6-87514507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87514507A>G , CM000668.2:g.87514507A>G | GRCh38 |
| NC_000006.11:g.88224225A>G , CM000668.1:g.88224225A>G | GRCh37 |
| NC_000006.10:g.88280944A>G | NCBI36 |
| NG_008601.1:g.80511T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451155.2:c.1240-8T>C | ENSP00000389656.2:n.1240-8T>C | |
| ENST00000493269.2:n.3324-8T>C | ||
| ENST00000497828.2:n.5499-8T>C | ||
| ENST00000684790.1:c.*657-8T>C | ENSP00000509974.1:n.*657-8T>C | |
| ENST00000685069.1:c.*153-8T>C | ENSP00000509876.1:n.*153-8T>C | |
| ENST00000685219.1:n.2052-8T>C | ||
| ENST00000685336.1:c.*1074-8T>C | ENSP00000508757.1:n.*1074-8T>C | |
| ENST00000685376.1:c.*773-8T>C | ENSP00000508661.1:n.*773-8T>C | |
| ENST00000685408.1:c.1126-8T>C | ENSP00000509026.1:n.1126-8T>C | |
| ENST00000685701.1:c.712-8T>C | ENSP00000509573.1:n.712-8T>C | |
| ENST00000685881.1:c.*153-8T>C | ENSP00000510572.1:n.*153-8T>C | |
| ENST00000686142.1:c.*153-8T>C | ENSP00000510793.1:n.*153-8T>C | |
| ENST00000686154.1:c.712-8T>C | ENSP00000508436.1:n.712-8T>C | |
| ENST00000686284.1:c.712-8T>C | ENSP00000510099.1:n.712-8T>C | |
| ENST00000686371.1:n.1153-8T>C | ||
| ENST00000686407.1:c.712-8T>C | ENSP00000509880.1:n.712-8T>C | |
| ENST00000686857.1:c.*567-8T>C | ENSP00000509934.1:n.*567-8T>C | |
| ENST00000686988.1:c.1749-8T>C | ENSP00000508830.1:n.1749-8T>C | |
| ENST00000687090.1:n.2381-8T>C | ||
| ENST00000687437.1:c.1741-8T>C | ENSP00000508968.1:n.1741-8T>C | |
| ENST00000687579.1:c.*697-8T>C | ENSP00000510257.1:n.*697-8T>C | |
| ENST00000687586.1:c.574-8T>C | ENSP00000508441.1:n.574-8T>C | |
| ENST00000687729.1:c.1069-8T>C | ENSP00000508582.1:n.1069-8T>C | |
| ENST00000687909.1:c.*1061-8T>C | ENSP00000508659.1:n.*1061-8T>C | |
| ENST00000688106.1:c.*153-8T>C | ENSP00000509529.1:n.*153-8T>C | |
| ENST00000688391.1:n.2159-8T>C | ||
| ENST00000688532.1:c.688-8T>C | ENSP00000510320.1:n.688-8T>C | |
| ENST00000688808.1:n.2522-8T>C | ||
| ENST00000689174.1:c.1126-8T>C | ENSP00000510542.1:n.1126-8T>C | |
| ENST00000689206.1:c.712-8T>C | ENSP00000510495.1:n.712-8T>C | |
| ENST00000689561.1:n.2667-8T>C | ||
| ENST00000689594.1:n.2643-8T>C | ||
| ENST00000689952.1:c.*989-8T>C | ENSP00000508977.1:n.*989-8T>C | |
| ENST00000690205.1:c.*1529-8T>C | ENSP00000508972.1:n.*1529-8T>C | |
| ENST00000690622.1:c.712-8T>C | ENSP00000508528.1:n.712-8T>C | |
| ENST00000690705.1:c.*567-8T>C | ENSP00000509923.1:n.*567-8T>C | |
| ENST00000690884.1:c.*567-8T>C | ENSP00000509931.1:n.*567-8T>C | |
| ENST00000691205.1:n.2982-8T>C | ||
| ENST00000691238.1:c.*773-8T>C | ENSP00000510094.1:n.*773-8T>C | |
| ENST00000691533.1:n.3340-8T>C | ||
| ENST00000691634.1:n.1532-8T>C | ||
| ENST00000691725.1:c.1651-8T>C | ENSP00000509453.1:n.1651-8T>C | |
| ENST00000691815.1:c.*567-8T>C | ENSP00000509579.1:n.*567-8T>C | |
| ENST00000692270.1:c.*567-8T>C | ENSP00000510055.1:n.*567-8T>C | |
| ENST00000692394.1:c.430-8T>C | ENSP00000509567.1:n.430-8T>C | |
| ENST00000692684.1:c.1126-8T>C | ENSP00000509712.1:n.1126-8T>C | |
| ENST00000692843.1:c.*638-8T>C | ENSP00000509592.1:n.*638-8T>C | |
| ENST00000693327.1:c.1126-8T>C | ENSP00000509195.1:n.1126-8T>C | |
| ENST00000693431.1:c.1126-8T>C | ENSP00000509147.1:n.1126-8T>C | |
| ENST00000693605.1:c.*567-8T>C | ENSP00000510050.1:n.*567-8T>C | |
| ENST00000369536.10:c.1651-8T>C MANE Select | ENSP00000358549.5:n.1651-8T>C | |
| ENST00000369536.9:c.1651-8T>C | ENSP00000358549.5:n.1651-8T>C | |
| ENST00000493269.1:n.254-8T>C | ||
| NM_020320.3:c.1651-8T>C | NP_064716.2:n.1651-8T>C | |
| XM_005248735.3:c.1126-8T>C | XP_005248792.2:n.1126-8T>C | |
| XM_005248736.3:c.1126-8T>C | XP_005248793.2:n.1126-8T>C | |
| XM_005248737.3:c.1126-8T>C | XP_005248794.2:n.1126-8T>C | |
| XM_011535947.1:c.1651-8T>C | XP_011534249.1:n.1651-8T>C | |
| XM_011535948.1:c.1651-8T>C | XP_011534250.1:n.1651-8T>C | |
| XM_011535950.1:c.1126-8T>C | XP_011534252.1:n.1126-8T>C | |
| XM_011535951.1:c.1126-8T>C | XP_011534253.1:n.1126-8T>C | |
| XM_011535952.1:c.712-8T>C | XP_011534254.1:n.712-8T>C | |
| XM_011535953.1:c.712-8T>C | XP_011534255.1:n.712-8T>C | |
| XM_011535954.1:c.712-8T>C | XP_011534256.1:n.712-8T>C | |
| XM_011535955.1:c.712-8T>C | XP_011534257.1:n.712-8T>C | |
| XR_241848.1:n.1707-8T>C | ||
| NM_001318785.1:c.1126-8T>C | NP_001305714.1:n.1126-8T>C | |
| NM_001350505.1:c.1651-8T>C | NP_001337434.1:n.1651-8T>C | |
| NM_001350506.1:c.1126-8T>C | NP_001337435.1:n.1126-8T>C | |
| NM_001350507.1:c.1126-8T>C | NP_001337436.1:n.1126-8T>C | |
| NM_001350508.1:c.1126-8T>C | NP_001337437.1:n.1126-8T>C | |
| NM_001350509.1:c.1126-8T>C | NP_001337438.1:n.1126-8T>C | |
| NM_001350510.1:c.1126-8T>C | NP_001337439.1:n.1126-8T>C | |
| NM_001350511.1:c.1126-8T>C | NP_001337440.1:n.1126-8T>C | |
| NM_020320.4:c.1651-8T>C | NP_064716.2:n.1651-8T>C | |
| NR_134857.1:n.1722-8T>C | ||
| NR_146738.1:n.1994-8T>C | ||
| NR_146739.1:n.1803-8T>C | ||
| NR_146740.1:n.2071-8T>C | ||
| NR_146741.1:n.1733-8T>C | ||
| NR_146742.1:n.2105-8T>C | ||
| NR_146743.1:n.1943-8T>C | ||
| NR_146744.1:n.2082-8T>C | ||
| NR_146745.1:n.1730-8T>C | ||
| NR_146746.1:n.2176-8T>C | ||
| NR_146747.1:n.1509-8T>C | ||
| NR_146748.1:n.1969-8T>C | ||
| NR_146749.1:n.1943-8T>C | ||
| NR_146750.1:n.2067-8T>C | ||
| NR_146751.1:n.1958-8T>C | ||
| NR_146752.1:n.2011-8T>C | ||
| NR_146753.1:n.1863-8T>C | ||
| NR_146754.1:n.1807-8T>C | ||
| NR_146755.1:n.2071-8T>C | ||
| NR_146756.1:n.1737-8T>C | ||
| NR_146757.1:n.1997-8T>C | ||
| NR_146758.1:n.1726-8T>C | ||
| NR_146759.1:n.1726-8T>C | ||
| XM_017011073.1:c.1126-8T>C | XP_016866562.1:n.1126-8T>C | |
| XM_017011074.2:c.1126-8T>C | XP_016866563.1:n.1126-8T>C | |
| XM_017011075.2:c.1126-8T>C | XP_016866564.1:n.1126-8T>C | |
| XM_017011076.2:c.1126-8T>C | XP_016866565.1:n.1126-8T>C | |
| XM_017011077.2:c.1126-8T>C | XP_016866566.1:n.1126-8T>C | |
| XM_017011078.2:c.1126-8T>C | XP_016866567.1:n.1126-8T>C | |
| XM_024446494.1:c.1126-8T>C | XP_024302262.1:n.1126-8T>C | |
| NM_020320.5:c.1651-8T>C MANE Select | NP_064716.2:n.1651-8T>C | |
| NM_001318785.2:c.1126-8T>C | NP_001305714.1:n.1126-8T>C | |
| NM_001350505.2:c.1651-8T>C | NP_001337434.1:n.1651-8T>C | |
| NM_001350506.2:c.1126-8T>C | NP_001337435.1:n.1126-8T>C | |
| NM_001350507.2:c.1126-8T>C | NP_001337436.1:n.1126-8T>C | |
| NM_001350508.2:c.1126-8T>C | NP_001337437.1:n.1126-8T>C | |
| NM_001350509.2:c.1126-8T>C | NP_001337438.1:n.1126-8T>C | |
| NM_001350510.2:c.1126-8T>C | NP_001337439.1:n.1126-8T>C | |
| NM_001350511.2:c.1126-8T>C | NP_001337440.1:n.1126-8T>C | |
| NR_134857.2:n.1677-8T>C | ||
| NR_146738.2:n.1949-8T>C | ||
| NR_146739.2:n.1758-8T>C | ||
| NR_146740.2:n.2026-8T>C | ||
| NR_146741.2:n.1688-8T>C | ||
| NR_146742.2:n.2060-8T>C | ||
| NR_146743.2:n.1898-8T>C | ||
| NR_146744.2:n.2037-8T>C | ||
| NR_146745.2:n.1685-8T>C | ||
| NR_146746.2:n.2131-8T>C | ||
| NR_146747.2:n.1464-8T>C | ||
| NR_146748.2:n.1924-8T>C | ||
| NR_146749.2:n.1898-8T>C | ||
| NR_146750.2:n.2022-8T>C | ||
| NR_146751.2:n.1913-8T>C | ||
| NR_146752.2:n.1966-8T>C | ||
| NR_146753.2:n.1818-8T>C | ||
| NR_146754.2:n.1762-8T>C | ||
| NR_146755.2:n.2026-8T>C | ||
| NR_146756.2:n.1692-8T>C | ||
| NR_146757.2:n.1952-8T>C | ||
| NR_146758.2:n.1681-8T>C | ||
| NR_146759.2:n.1681-8T>C |