Linked Data
dbSNP Id:
rs17485138
gnomAD v2:
13-109502849-C-T
gnomAD v3:
13-108850501-C-T
gnomAD v4:
13-108850501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108850501C>T , CM000675.2:g.108850501C>T | GRCh38 |
| NC_000013.10:g.109502849C>T , CM000675.1:g.109502849C>T | GRCh37 |
| NC_000013.9:g.108300850C>T | NCBI36 |
| NG_053147.1:g.359773C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251041.10:c.1183-4942C>T | ENSP00000251041.5:n.1183-4942C>T | |
| ENST00000356711.7:c.1183-4942C>T | ENSP00000349145.2:n.1183-4942C>T | |
| ENST00000457511.7:c.1249-4942C>T MANE Select | ENSP00000401633.3:n.1249-4942C>T | |
| ENST00000251041.9:c.1183-4942C>T | ENSP00000251041.5:n.1183-4942C>T | |
| ENST00000356711.6:c.1183-4942C>T | ENSP00000349145.2:n.1183-4942C>T | |
| ENST00000357550.3:c.1183-4942C>T | ENSP00000350160.2:n.1183-4942C>T | |
| ENST00000375857.6:n.569-4942C>T | ||
| ENST00000457511.6:c.1249-4942C>T | ENSP00000401633.3:n.1249-4942C>T | |
| NM_001198950.1:c.1249-4942C>T | NP_001185879.1:n.1249-4942C>T | |
| NM_015011.1:c.1183-4942C>T | NP_055826.1:n.1183-4942C>T | |
| XM_011521062.1:c.1183-4942C>T | XP_011519364.1:n.1183-4942C>T | |
| NM_001198950.2:c.1249-4942C>T | NP_001185879.1:n.1249-4942C>T | |
| NM_015011.2:c.1183-4942C>T | NP_055826.1:n.1183-4942C>T | |
| NM_001198950.3:c.1249-4942C>T MANE Select | NP_001185879.1:n.1249-4942C>T | |
| NM_015011.3:c.1183-4942C>T | NP_055826.1:n.1183-4942C>T |