Linked Data
dbSNP Id:
rs12988934
gnomAD v2:
2-182323665-C-T
gnomAD v3:
2-181458938-C-T
gnomAD v4:
2-181458938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181458938C>T , CM000664.2:g.181458938C>T | GRCh38 |
| NC_000002.11:g.182323665C>T , CM000664.1:g.182323665C>T | GRCh37 |
| NC_000002.10:g.182031910C>T | NCBI36 |
| NG_050623.1:g.7047C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397033.7:c.319+621C>T MANE Select | ENSP00000380227.2:n.319+621C>T | |
| ENST00000233573.6:c.319+621C>T | ENSP00000233573.6:n.319+621C>T | |
| ENST00000339307.8:c.319+621C>T | ENSP00000340149.4:n.319+621C>T | |
| ENST00000397033.6:c.319+621C>T | ENSP00000380227.2:n.319+621C>T | |
| ENST00000465522.5:n.570+621C>T | ||
| ENST00000476089.1:n.1393C>T | ||
| ENST00000478440.1:n.77+621C>T | ||
| ENST00000484404.1:n.261+621C>T | ||
| NM_000885.4:c.319+621C>T | NP_000876.3:n.319+621C>T | |
| NM_000885.5:c.319+621C>T | NP_000876.3:n.319+621C>T | |
| NM_001316312.1:c.319+621C>T | NP_001303241.1:n.319+621C>T | |
| NM_000885.6:c.319+621C>T MANE Select | NP_000876.3:n.319+621C>T | |
| NM_001316312.2:c.319+621C>T | NP_001303241.1:n.319+621C>T |