Linked Data
dbSNP Id:
rs1006615
ExAC:
9:133308780 C / T
gnomAD v2:
9-133308780-C-T
gnomAD v3:
9-130433393-C-T
gnomAD v4:
9-130433393-C-T
COSMIC:
COSM4163425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433393C>T , CM000671.2:g.130433393C>T | GRCh38 |
| NC_000009.11:g.133308780C>T , CM000671.1:g.133308780C>T | GRCh37 |
| NC_000009.10:g.132298601C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14883C>T | ENSP00000485357.2:p.Pro4961= | |
| ENST00000683500.2:c.14940C>T MANE Select | ENSP00000508292.2:p.Pro4980= | |
| ENST00000623487.1:n.3286C>T | ||
| ENST00000624552.3:c.14880C>T | ENSP00000485357.1:p.Pro4960= | |
| NM_001291815.1:c.14940C>T | NP_001278744.1:p.Pro4980= | |
| XM_011518465.1:c.14817C>T | XP_011516767.1:p.Pro4939= | |
| XM_011518466.1:c.14808C>T | XP_011516768.1:p.Pro4936= | |
| XM_011518467.1:c.14763C>T | XP_011516769.1:p.Pro4921= | |
| NM_001291815.2:c.14940C>T MANE Select | NP_001278744.1:p.Pro4980= | |
| XM_011518465.2:c.14817C>T | XP_011516767.1:p.Pro4939= | |
| XM_011518466.2:c.14808C>T | XP_011516768.1:p.Pro4936= | |
| XM_011518467.2:c.14763C>T | XP_011516769.1:p.Pro4921= | |
| XM_017014585.1:c.11721C>T | XP_016870074.1:p.Pro3907= | |
| XM_017014586.1:c.7518C>T | XP_016870075.1:p.Pro2506= | |
| XR_001746957.1:n.92+228G>A | ||
| XR_001746958.1:n.92+228G>A |