Linked Data
dbSNP Id:
rs12488820
gnomAD v2:
3-119502069-T-C
gnomAD v3:
3-119783222-T-C
gnomAD v4:
3-119783222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119783222T>C , CM000665.2:g.119783222T>C | GRCh38 |
| NC_000003.11:g.119502069T>C , CM000665.1:g.119502069T>C | GRCh37 |
| NC_000003.10:g.120984759T>C | NCBI36 |
| NG_011856.1:g.7739T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393716.8:c.-23+922T>C MANE Select | ENSP00000377319.3:n.-23+922T>C | |
| ENST00000466380.6:c.-23+922T>C | ENSP00000420297.2:n.-23+922T>C | |
| ENST00000648112.1:c.*2-24007T>C | ENSP00000497876.1:n.*2-24007T>C | |
| ENST00000337940.4:c.95+370T>C | ENSP00000336528.4:n.95+370T>C | |
| ENST00000393716.6:c.-23+922T>C | ENSP00000377319.2:n.-23+922T>C | |
| ENST00000466380.5:c.-23+922T>C | ENSP00000420297.1:n.-23+922T>C | |
| ENST00000474090.1:n.266+922T>C | ||
| NM_003889.3:c.-23+922T>C | NP_003880.3:n.-23+922T>C | |
| NM_022002.2:c.95+370T>C | NP_071285.1:n.95+370T>C | |
| NM_033013.2:c.-23+922T>C | NP_148934.1:n.-23+922T>C | |
| NM_003889.4:c.-23+922T>C MANE Select | NP_003880.3:n.-23+922T>C | |
| NM_022002.3:c.95+370T>C | NP_071285.1:n.95+370T>C | |
| NM_033013.3:c.-23+922T>C | NP_148934.1:n.-23+922T>C |