Linked Data
dbSNP Id:
rs149485015
ExAC:
3:119526091 A / C
gnomAD v2:
3-119526091-A-C
gnomAD v4:
3-119807244-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807244A>C , CM000665.2:g.119807244A>C | GRCh38 |
| NC_000003.11:g.119526091A>C , CM000665.1:g.119526091A>C | GRCh37 |
| NC_000003.10:g.121008781A>C | NCBI36 |
| NG_011856.1:g.31761A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.-7A>C MANE Select | ENSP00000377319.3:n.-7A>C | |
| ENST00000466380.6:c.-7A>C | ENSP00000420297.2:n.-7A>C | |
| ENST00000648112.1:c.*17A>C | ENSP00000497876.1:n.*17A>C | |
| ENST00000337940.4:c.111A>C | ENSP00000336528.4:p.Glu37Asp | |
| ENST00000393716.6:c.-7A>C | ENSP00000377319.2:n.-7A>C | |
| ENST00000466380.5:c.-7A>C | ENSP00000420297.1:n.-7A>C | |
| ENST00000474090.1:n.282A>C | ||
| NM_003889.3:c.-7A>C | NP_003880.3:n.-7A>C | |
| NM_022002.2:c.111A>C | NP_071285.1:p.Glu37Asp | |
| NM_033013.2:c.-7A>C | NP_148934.1:n.-7A>C | |
| NM_003889.4:c.-7A>C MANE Select | NP_003880.3:n.-7A>C | |
| NM_022002.3:c.111A>C | NP_071285.1:p.Glu37Asp | |
| NM_033013.3:c.-7A>C | NP_148934.1:n.-7A>C |