Linked Data
ClinVar Variation Id:
3226948
ClinVar RCV Id:
RCV004522114
dbSNP Id:
rs764212360
ExAC:
9:139412593 C / T
gnomAD v2:
9-139412593-C-T
gnomAD v3:
9-136518141-C-T
gnomAD v4:
9-136518141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136518141C>T , CM000671.2:g.136518141C>T | GRCh38 |
| NC_000009.11:g.139412593C>T , CM000671.1:g.139412593C>T | GRCh37 |
| NC_000009.10:g.138532414C>T | NCBI36 |
| NG_007458.1:g.32646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.1251G>A MANE Select | ENSP00000498587.1:p.Ser417= | |
| ENST00000679595.1:c.1251G>A | ENSP00000506241.1:p.Ser417= | |
| ENST00000680133.1:c.1251G>A | ENSP00000505319.1:p.Ser417= | |
| ENST00000680218.1:c.1251G>A | ENSP00000505339.1:p.Ser417= | |
| ENST00000680668.1:c.1251G>A | ENSP00000506336.1:p.Ser417= | |
| ENST00000680924.1:c.1251G>A | ENSP00000506031.1:p.Ser417= | |
| ENST00000681135.1:c.1251G>A | ENSP00000506636.1:p.Ser417= | |
| ENST00000681454.1:c.*487G>A | ENSP00000505763.1:n.*487G>A | |
| ENST00000277541.6:c.1251G>A | ENSP00000277541.6:p.Ser417= | |
| NM_017617.3:c.1251G>A | NP_060087.3:p.Ser417= | |
| XM_011518717.1:c.552G>A | XP_011517019.1:p.Ser184= | |
| NM_017617.5:c.1251G>A MANE Select | NP_060087.3:p.Ser417= | |
| XM_011518717.2:c.528G>A | XP_011517019.2:p.Ser176= |