Linked Data
dbSNP Id:
rs2180341
gnomAD v2:
6-127600630-G-A
gnomAD v3:
6-127279485-G-A
gnomAD v4:
6-127279485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.127279485G>A , CM000668.2:g.127279485G>A | GRCh38 |
| NC_000006.11:g.127600630G>A , CM000668.1:g.127600630G>A | GRCh37 |
| NC_000006.10:g.127642323G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368314.6:c.-108-746G>A MANE Select | ENSP00000357297.1:n.-108-746G>A | |
| ENST00000309649.7:c.-328-746G>A | ENSP00000309365.3:n.-328-746G>A | |
| ENST00000356799.6:c.-108-746G>A | ENSP00000349253.3:n.-108-746G>A | |
| ENST00000368314.5:c.-108-746G>A | ENSP00000357297.1:n.-108-746G>A | |
| ENST00000476956.5:c.-108-746G>A | ENSP00000477204.1:n.-108-746G>A | |
| ENST00000477776.5:c.-211-746G>A | ENSP00000476867.1:n.-211-746G>A | |
| ENST00000480444.1:c.-211-746G>A | ENSP00000476424.1:n.-211-746G>A | |
| ENST00000489534.5:n.163-746G>A | ||
| ENST00000495188.2:n.76-746G>A | ||
| ENST00000608340.5:n.214-746G>A | ||
| ENST00000608991.5:c.-380-746G>A | ENSP00000477168.1:n.-380-746G>A | |
| ENST00000609447.5:c.-211-746G>A | ENSP00000477019.1:n.-211-746G>A | |
| ENST00000609944.5:c.-300-746G>A | ENSP00000477440.1:n.-300-746G>A | |
| ENST00000610153.1:c.-108-746G>A | ENSP00000476814.1:n.-108-746G>A | |
| ENST00000610162.5:c.-328-746G>A | ENSP00000476888.1:n.-328-746G>A | |
| ENST00000616343.4:c.-108-746G>A | ENSP00000479890.1:n.-108-746G>A | |
| NM_001242844.1:c.-348-746G>A | NP_001229773.1:n.-348-746G>A | |
| NM_001242845.1:c.-348-746G>A | NP_001229774.1:n.-348-746G>A | |
| NM_001242846.1:c.-380-746G>A | NP_001229775.1:n.-380-746G>A | |
| NM_001242847.1:c.-239-746G>A | NP_001229776.1:n.-239-746G>A | |
| NM_001242848.1:c.-239-746G>A | NP_001229777.1:n.-239-746G>A | |
| NM_001242849.1:c.-108-746G>A | NP_001229778.1:n.-108-746G>A | |
| NM_001242850.1:c.-108-746G>A | NP_001229779.1:n.-108-746G>A | |
| NM_001242851.1:c.-108-746G>A | NP_001229780.1:n.-108-746G>A | |
| NM_001242852.1:c.-328-746G>A | NP_001229781.1:n.-328-746G>A | |
| NM_030963.3:c.-348-746G>A | NP_112225.2:n.-348-746G>A | |
| XM_006715571.2:c.-380-746G>A | XP_006715634.1:n.-380-746G>A | |
| XM_011536161.1:c.-437-746G>A | XP_011534463.1:n.-437-746G>A | |
| XM_011536162.1:c.-489-746G>A | XP_011534464.1:n.-489-746G>A | |
| XM_011536163.1:c.-469-746G>A | XP_011534465.1:n.-469-746G>A | |
| XM_011536164.1:c.-328-746G>A | XP_011534466.1:n.-328-746G>A | |
| XM_006715571.4:c.-380-746G>A | XP_006715634.1:n.-380-746G>A | |
| XM_011536161.3:c.-437-746G>A | XP_011534463.1:n.-437-746G>A | |
| XM_011536162.3:c.-489-746G>A | XP_011534464.1:n.-489-746G>A | |
| XM_011536163.3:c.-469-746G>A | XP_011534465.1:n.-469-746G>A | |
| XM_011536164.3:c.-328-746G>A | XP_011534466.1:n.-328-746G>A | |
| XM_017011336.2:c.-108-746G>A | XP_016866825.1:n.-108-746G>A | |
| XM_017011338.2:c.-578-746G>A | XP_016866827.1:n.-578-746G>A | |
| XM_017011339.2:c.-437-746G>A | XP_016866828.1:n.-437-746G>A | |
| XM_017011340.2:c.-489-746G>A | XP_016866829.1:n.-489-746G>A | |
| XM_017011341.2:c.-239-746G>A | XP_016866830.1:n.-239-746G>A | |
| XM_017011342.2:c.-380-746G>A | XP_016866831.1:n.-380-746G>A | |
| XM_017011343.2:c.-489-746G>A | XP_016866832.1:n.-489-746G>A | |
| NM_001242844.2:c.-348-746G>A | NP_001229773.1:n.-348-746G>A | |
| NM_001242845.2:c.-348-746G>A | NP_001229774.1:n.-348-746G>A | |
| NM_001242846.2:c.-380-746G>A | NP_001229775.1:n.-380-746G>A | |
| NM_001242847.2:c.-239-746G>A | NP_001229776.1:n.-239-746G>A | |
| NM_001242848.2:c.-239-746G>A | NP_001229777.1:n.-239-746G>A | |
| NM_001242849.2:c.-108-746G>A | NP_001229778.1:n.-108-746G>A | |
| NM_001242850.2:c.-108-746G>A MANE Select | NP_001229779.1:n.-108-746G>A | |
| NM_001242852.2:c.-328-746G>A | NP_001229781.1:n.-328-746G>A | |
| NM_030963.4:c.-348-746G>A | NP_112225.2:n.-348-746G>A |