Linked Data
ClinVar Variation Id:
376037
dbSNP Id:
rs121913504
gnomAD v4:
19-17837200-G-A
COSMIC:
COSM34214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17837200G>A , CM000681.2:g.17837200G>A | GRCh38 |
| NC_000019.9:g.17948009G>A , CM000681.1:g.17948009G>A | GRCh37 |
| NC_000019.8:g.17809009G>A | NCBI36 |
| NG_007273.1:g.15792C>T , LRG_77:g.15792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*272C>T | ENSP00000513006.1:n.*272C>T | |
| ENST00000696967.1:n.892C>T | ||
| ENST00000696970.1:n.370C>T | ||
| ENST00000458235.7:c.1715C>T MANE Select | ENSP00000391676.1:p.Ala572Val | |
| ENST00000458235.5:c.1715C>T | ENSP00000391676.1:p.Ala572Val | |
| ENST00000527031.5:n.1805C>T | ||
| ENST00000527670.5:c.1715C>T | ENSP00000432511.1:p.Ala572Val | |
| ENST00000534444.1:c.1715C>T | ENSP00000436421.1:p.Ala572Val | |
| NM_000215.3:c.1715C>T , LRG_77t1:c.1715C>T | NP_000206.2:p.Ala572Val | |
| XM_005259896.2:c.1844C>T | XP_005259953.1:p.Ala615Val | |
| XM_006722745.2:c.1715C>T | XP_006722808.1:p.Ala572Val | |
| XM_011527990.1:c.1844C>T | XP_011526292.1:p.Ala615Val | |
| XM_011527991.1:c.1844C>T | XP_011526293.1:p.Ala615Val | |
| XR_430137.2:n.1854C>T | ||
| XM_005259896.3:c.1844C>T | XP_005259953.1:p.Ala615Val | |
| XM_011527991.2:c.1844C>T | XP_011526293.1:p.Ala615Val | |
| NM_000215.4:c.1715C>T MANE Select | NP_000206.2:p.Ala572Val |