Linked Data
ClinVar Variation Id:
2678254
dbSNP Id:
rs1380223731
gnomAD v3:
6-87514956-C-A
gnomAD v4:
6-87514956-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87514956C>A , CM000668.2:g.87514956C>A | GRCh38 |
| NC_000006.11:g.88224674C>A , CM000668.1:g.88224674C>A | GRCh37 |
| NC_000006.10:g.88281393C>A | NCBI36 |
| NG_008601.1:g.80062G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451155.2:c.1239+1G>T | ENSP00000389656.2:n.1239+1G>T | |
| ENST00000493269.2:n.3323+1G>T | ||
| ENST00000497828.2:n.5498+1G>T | ||
| ENST00000684790.1:c.*656+1G>T | ENSP00000509974.1:n.*656+1G>T | |
| ENST00000685069.1:c.*152+1G>T | ENSP00000509876.1:n.*152+1G>T | |
| ENST00000685219.1:n.2051+1G>T | ||
| ENST00000685336.1:c.*1073+1G>T | ENSP00000508757.1:n.*1073+1G>T | |
| ENST00000685376.1:c.*772+1G>T | ENSP00000508661.1:n.*772+1G>T | |
| ENST00000685408.1:c.1125+1G>T | ENSP00000509026.1:n.1125+1G>T | |
| ENST00000685701.1:c.711+1G>T | ENSP00000509573.1:n.711+1G>T | |
| ENST00000685881.1:c.*152+1G>T | ENSP00000510572.1:n.*152+1G>T | |
| ENST00000686142.1:c.*152+1G>T | ENSP00000510793.1:n.*152+1G>T | |
| ENST00000686154.1:c.711+1G>T | ENSP00000508436.1:n.711+1G>T | |
| ENST00000686284.1:c.711+1G>T | ENSP00000510099.1:n.711+1G>T | |
| ENST00000686371.1:n.1152+1G>T | ||
| ENST00000686407.1:c.711+1G>T | ENSP00000509880.1:n.711+1G>T | |
| ENST00000686857.1:c.*566+1G>T | ENSP00000509934.1:n.*566+1G>T | |
| ENST00000686988.1:c.1748+1G>T | ENSP00000508830.1:n.1748+1G>T | |
| ENST00000687090.1:n.2380+1G>T | ||
| ENST00000687437.1:c.1740+1G>T | ENSP00000508968.1:n.1740+1G>T | |
| ENST00000687579.1:c.*696+1G>T | ENSP00000510257.1:n.*696+1G>T | |
| ENST00000687586.1:c.573+1G>T | ENSP00000508441.1:n.573+1G>T | |
| ENST00000687729.1:c.1068+1G>T | ENSP00000508582.1:n.1068+1G>T | |
| ENST00000687909.1:c.*1060+1G>T | ENSP00000508659.1:n.*1060+1G>T | |
| ENST00000688106.1:c.*152+1G>T | ENSP00000509529.1:n.*152+1G>T | |
| ENST00000688391.1:n.2158+1G>T | ||
| ENST00000688532.1:c.687+1G>T | ENSP00000510320.1:n.687+1G>T | |
| ENST00000688808.1:n.2521+1G>T | ||
| ENST00000689174.1:c.1125+1G>T | ENSP00000510542.1:n.1125+1G>T | |
| ENST00000689206.1:c.711+1G>T | ENSP00000510495.1:n.711+1G>T | |
| ENST00000689561.1:n.2666+1G>T | ||
| ENST00000689594.1:n.2642+1G>T | ||
| ENST00000689952.1:c.*988+1G>T | ENSP00000508977.1:n.*988+1G>T | |
| ENST00000690205.1:c.*1528+1G>T | ENSP00000508972.1:n.*1528+1G>T | |
| ENST00000690622.1:c.711+1G>T | ENSP00000508528.1:n.711+1G>T | |
| ENST00000690705.1:c.*566+1G>T | ENSP00000509923.1:n.*566+1G>T | |
| ENST00000690884.1:c.*566+1G>T | ENSP00000509931.1:n.*566+1G>T | |
| ENST00000691205.1:n.2981+1G>T | ||
| ENST00000691238.1:c.*772+1G>T | ENSP00000510094.1:n.*772+1G>T | |
| ENST00000691533.1:n.3339+1G>T | ||
| ENST00000691634.1:n.1531+1G>T | ||
| ENST00000691725.1:c.1650+1G>T | ENSP00000509453.1:n.1650+1G>T | |
| ENST00000691815.1:c.*566+1G>T | ENSP00000509579.1:n.*566+1G>T | |
| ENST00000692270.1:c.*566+1G>T | ENSP00000510055.1:n.*566+1G>T | |
| ENST00000692394.1:c.429+1G>T | ENSP00000509567.1:n.429+1G>T | |
| ENST00000692684.1:c.1125+1G>T | ENSP00000509712.1:n.1125+1G>T | |
| ENST00000692843.1:c.*637+1G>T | ENSP00000509592.1:n.*637+1G>T | |
| ENST00000693327.1:c.1125+1G>T | ENSP00000509195.1:n.1125+1G>T | |
| ENST00000693431.1:c.1125+1G>T | ENSP00000509147.1:n.1125+1G>T | |
| ENST00000693605.1:c.*566+1G>T | ENSP00000510050.1:n.*566+1G>T | |
| ENST00000369536.10:c.1650+1G>T MANE Select | ENSP00000358549.5:n.1650+1G>T | |
| ENST00000369536.9:c.1650+1G>T | ENSP00000358549.5:n.1650+1G>T | |
| ENST00000493269.1:n.253+1G>T | ||
| NM_020320.3:c.1650+1G>T | NP_064716.2:n.1650+1G>T | |
| XM_005248735.3:c.1125+1G>T | XP_005248792.2:n.1125+1G>T | |
| XM_005248736.3:c.1125+1G>T | XP_005248793.2:n.1125+1G>T | |
| XM_005248737.3:c.1125+1G>T | XP_005248794.2:n.1125+1G>T | |
| XM_011535947.1:c.1650+1G>T | XP_011534249.1:n.1650+1G>T | |
| XM_011535948.1:c.1650+1G>T | XP_011534250.1:n.1650+1G>T | |
| XM_011535950.1:c.1125+1G>T | XP_011534252.1:n.1125+1G>T | |
| XM_011535951.1:c.1125+1G>T | XP_011534253.1:n.1125+1G>T | |
| XM_011535952.1:c.711+1G>T | XP_011534254.1:n.711+1G>T | |
| XM_011535953.1:c.711+1G>T | XP_011534255.1:n.711+1G>T | |
| XM_011535954.1:c.711+1G>T | XP_011534256.1:n.711+1G>T | |
| XM_011535955.1:c.711+1G>T | XP_011534257.1:n.711+1G>T | |
| XR_241848.1:n.1706+1G>T | ||
| NM_001318785.1:c.1125+1G>T | NP_001305714.1:n.1125+1G>T | |
| NM_001350505.1:c.1650+1G>T | NP_001337434.1:n.1650+1G>T | |
| NM_001350506.1:c.1125+1G>T | NP_001337435.1:n.1125+1G>T | |
| NM_001350507.1:c.1125+1G>T | NP_001337436.1:n.1125+1G>T | |
| NM_001350508.1:c.1125+1G>T | NP_001337437.1:n.1125+1G>T | |
| NM_001350509.1:c.1125+1G>T | NP_001337438.1:n.1125+1G>T | |
| NM_001350510.1:c.1125+1G>T | NP_001337439.1:n.1125+1G>T | |
| NM_001350511.1:c.1125+1G>T | NP_001337440.1:n.1125+1G>T | |
| NM_020320.4:c.1650+1G>T | NP_064716.2:n.1650+1G>T | |
| NR_134857.1:n.1721+1G>T | ||
| NR_146738.1:n.1993+1G>T | ||
| NR_146739.1:n.1802+1G>T | ||
| NR_146740.1:n.2070+1G>T | ||
| NR_146741.1:n.1732+1G>T | ||
| NR_146742.1:n.2104+1G>T | ||
| NR_146743.1:n.1942+1G>T | ||
| NR_146744.1:n.2081+1G>T | ||
| NR_146745.1:n.1729+1G>T | ||
| NR_146746.1:n.2175+1G>T | ||
| NR_146747.1:n.1508+1G>T | ||
| NR_146748.1:n.1968+1G>T | ||
| NR_146749.1:n.1942+1G>T | ||
| NR_146750.1:n.2066+1G>T | ||
| NR_146751.1:n.1957+1G>T | ||
| NR_146752.1:n.2010+1G>T | ||
| NR_146753.1:n.1862+1G>T | ||
| NR_146754.1:n.1806+1G>T | ||
| NR_146755.1:n.2070+1G>T | ||
| NR_146756.1:n.1736+1G>T | ||
| NR_146757.1:n.1996+1G>T | ||
| NR_146758.1:n.1725+1G>T | ||
| NR_146759.1:n.1725+1G>T | ||
| XM_017011073.1:c.1125+1G>T | XP_016866562.1:n.1125+1G>T | |
| XM_017011074.2:c.1125+1G>T | XP_016866563.1:n.1125+1G>T | |
| XM_017011075.2:c.1125+1G>T | XP_016866564.1:n.1125+1G>T | |
| XM_017011076.2:c.1125+1G>T | XP_016866565.1:n.1125+1G>T | |
| XM_017011077.2:c.1125+1G>T | XP_016866566.1:n.1125+1G>T | |
| XM_017011078.2:c.1125+1G>T | XP_016866567.1:n.1125+1G>T | |
| XM_024446494.1:c.1125+1G>T | XP_024302262.1:n.1125+1G>T | |
| NM_020320.5:c.1650+1G>T MANE Select | NP_064716.2:n.1650+1G>T | |
| NM_001318785.2:c.1125+1G>T | NP_001305714.1:n.1125+1G>T | |
| NM_001350505.2:c.1650+1G>T | NP_001337434.1:n.1650+1G>T | |
| NM_001350506.2:c.1125+1G>T | NP_001337435.1:n.1125+1G>T | |
| NM_001350507.2:c.1125+1G>T | NP_001337436.1:n.1125+1G>T | |
| NM_001350508.2:c.1125+1G>T | NP_001337437.1:n.1125+1G>T | |
| NM_001350509.2:c.1125+1G>T | NP_001337438.1:n.1125+1G>T | |
| NM_001350510.2:c.1125+1G>T | NP_001337439.1:n.1125+1G>T | |
| NM_001350511.2:c.1125+1G>T | NP_001337440.1:n.1125+1G>T | |
| NR_134857.2:n.1676+1G>T | ||
| NR_146738.2:n.1948+1G>T | ||
| NR_146739.2:n.1757+1G>T | ||
| NR_146740.2:n.2025+1G>T | ||
| NR_146741.2:n.1687+1G>T | ||
| NR_146742.2:n.2059+1G>T | ||
| NR_146743.2:n.1897+1G>T | ||
| NR_146744.2:n.2036+1G>T | ||
| NR_146745.2:n.1684+1G>T | ||
| NR_146746.2:n.2130+1G>T | ||
| NR_146747.2:n.1463+1G>T | ||
| NR_146748.2:n.1923+1G>T | ||
| NR_146749.2:n.1897+1G>T | ||
| NR_146750.2:n.2021+1G>T | ||
| NR_146751.2:n.1912+1G>T | ||
| NR_146752.2:n.1965+1G>T | ||
| NR_146753.2:n.1817+1G>T | ||
| NR_146754.2:n.1761+1G>T | ||
| NR_146755.2:n.2025+1G>T | ||
| NR_146756.2:n.1691+1G>T | ||
| NR_146757.2:n.1951+1G>T | ||
| NR_146758.2:n.1680+1G>T | ||
| NR_146759.2:n.1680+1G>T |