Linked Data
dbSNP Id:
rs779386677
ExAC:
9:133308770 C / T
gnomAD v2:
9-133308770-C-T
gnomAD v4:
9-130433383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433383C>T , CM000671.2:g.130433383C>T | GRCh38 |
| NC_000009.11:g.133308770C>T , CM000671.1:g.133308770C>T | GRCh37 |
| NC_000009.10:g.132298591C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14873C>T | ENSP00000485357.2:p.Thr4958Met | |
| ENST00000683500.2:c.14930C>T MANE Select | ENSP00000508292.2:p.Thr4977Met | |
| ENST00000623487.1:n.3276C>T | ||
| ENST00000624552.3:c.14870C>T | ENSP00000485357.1:p.Thr4957Met | |
| NM_001291815.1:c.14930C>T | NP_001278744.1:p.Thr4977Met | |
| XM_011518465.1:c.14807C>T | XP_011516767.1:p.Thr4936Met | |
| XM_011518466.1:c.14798C>T | XP_011516768.1:p.Thr4933Met | |
| XM_011518467.1:c.14753C>T | XP_011516769.1:p.Thr4918Met | |
| NM_001291815.2:c.14930C>T MANE Select | NP_001278744.1:p.Thr4977Met | |
| XM_011518465.2:c.14807C>T | XP_011516767.1:p.Thr4936Met | |
| XM_011518466.2:c.14798C>T | XP_011516768.1:p.Thr4933Met | |
| XM_011518467.2:c.14753C>T | XP_011516769.1:p.Thr4918Met | |
| XM_017014585.1:c.11711C>T | XP_016870074.1:p.Thr3904Met | |
| XM_017014586.1:c.7508C>T | XP_016870075.1:p.Thr2503Met | |
| XR_001746957.1:n.92+238G>A | ||
| XR_001746958.1:n.92+238G>A |