Linked Data
dbSNP Id:
rs999606795
gnomAD v4:
9-130433369-G-T
MyVariant Identifiers:
chr9:g.133308756G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130433369G>T , CM000671.2:g.130433369G>T | GRCh38 |
| NC_000009.11:g.133308756G>T , CM000671.1:g.133308756G>T | GRCh37 |
| NC_000009.10:g.132298577G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624552.4:c.14859G>T | ENSP00000485357.2:p.Ser4953= | |
| ENST00000683500.2:c.14916G>T MANE Select | ENSP00000508292.2:p.Ser4972= | |
| ENST00000623487.1:n.3262G>T | ||
| ENST00000624552.3:c.14856G>T | ENSP00000485357.1:p.Ser4952= | |
| NM_001291815.1:c.14916G>T | NP_001278744.1:p.Ser4972= | |
| XM_011518465.1:c.14793G>T | XP_011516767.1:p.Ser4931= | |
| XM_011518466.1:c.14784G>T | XP_011516768.1:p.Ser4928= | |
| XM_011518467.1:c.14739G>T | XP_011516769.1:p.Ser4913= | |
| NM_001291815.2:c.14916G>T MANE Select | NP_001278744.1:p.Ser4972= | |
| XM_011518465.2:c.14793G>T | XP_011516767.1:p.Ser4931= | |
| XM_011518466.2:c.14784G>T | XP_011516768.1:p.Ser4928= | |
| XM_011518467.2:c.14739G>T | XP_011516769.1:p.Ser4913= | |
| XM_017014585.1:c.11697G>T | XP_016870074.1:p.Ser3899= | |
| XM_017014586.1:c.7494G>T | XP_016870075.1:p.Ser2498= | |
| XR_001746957.1:n.92+252C>A | ||
| XR_001746958.1:n.92+252C>A |