Linked Data
ClinVar Variation Id:
216975
ClinVar RCV Id:
RCV000197157
dbSNP Id:
rs775441984
gnomAD v4:
9-124503172-C-A
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503172C>A , CM000671.2:g.124503172C>A | GRCh38 |
| NC_000009.11:g.127265451C>A , CM000671.1:g.127265451C>A | GRCh37 |
| NC_000009.10:g.126305272C>A | NCBI36 |
| NG_008176.1:g.9249G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.151G>T MANE Select | ENSP00000362690.4:p.Glu51Ter | |
| ENST00000373588.8:c.151G>T | ENSP00000362690.4:p.Glu51Ter | |
| ENST00000455734.1:c.151G>T | ENSP00000393245.1:p.Glu51Ter | |
| ENST00000620110.4:c.151G>T | ENSP00000483309.1:p.Glu51Ter | |
| NM_004959.4:c.151G>T | NP_004950.2:p.Glu51Ter | |
| XM_005251871.2:c.151G>T | XP_005251928.1:p.Glu51Ter | |
| XM_005251872.3:c.-18+122G>T | XP_005251929.1:n.-18+122G>T | |
| XM_011518455.1:c.151G>T | XP_011516757.1:p.Glu51Ter | |
| XM_011518456.1:c.151G>T | XP_011516758.1:p.Glu51Ter | |
| NM_004959.5:c.151G>T MANE Select | NP_004950.2:p.Glu51Ter |