gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20369251G>T , CM000669.2:g.20369251G>T | GRCh38 |
| NC_000007.13:g.20408874G>T , CM000669.1:g.20408874G>T | GRCh37 |
| NC_000007.12:g.20375399G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222573.5:c.388+2065G>T MANE Select | ENSP00000222573.3:n.388+2065G>T | |
| ENST00000222573.4:c.388+2065G>T | ENSP00000222573.3:n.388+2065G>T | |
| ENST00000477859.1:n.2542+2065G>T | ||
| ENST00000478974.1:n.1093+2065G>T | ||
| ENST00000537992.5:c.-18+2065G>T | ENSP00000441561.1:n.-18+2065G>T | |
| NM_002214.2:c.388+2065G>T | NP_002205.1:n.388+2065G>T | |
| XM_011515392.1:c.385+2065G>T | XP_011513694.1:n.385+2065G>T | |
| XM_011515393.1:c.364+2065G>T | XP_011513695.1:n.364+2065G>T | |
| XM_011515394.1:c.355+2065G>T | XP_011513696.1:n.355+2065G>T | |
| XM_011515395.1:c.-18+2065G>T | XP_011513697.1:n.-18+2065G>T | |
| XM_011515396.1:c.-18+2065G>T | XP_011513698.1:n.-18+2065G>T | |
| XM_011515393.2:c.364+2065G>T | XP_011513695.1:n.364+2065G>T | |
| XM_011515394.2:c.355+2065G>T | XP_011513696.1:n.355+2065G>T | |
| XM_017012178.1:c.388+2065G>T | XP_016867667.1:n.388+2065G>T | |
| XM_017012179.1:c.388+2065G>T | XP_016867668.1:n.388+2065G>T | |
| XM_017012180.1:c.-18+2065G>T | XP_016867669.1:n.-18+2065G>T | |
| XM_017012181.1:c.-18+2065G>T | XP_016867670.1:n.-18+2065G>T | |
| XM_017012182.1:c.-18+2065G>T | XP_016867671.1:n.-18+2065G>T | |
| XM_017012183.1:c.-18+2065G>T | XP_016867672.1:n.-18+2065G>T | |
| NM_002214.3:c.388+2065G>T MANE Select | NP_002205.1:n.388+2065G>T |