Linked Data
ClinVar Variation Id:
30054
dbSNP Id:
rs387906745
gnomAD v4:
9-27212764-G-A
PubMed:
PMID:19888299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27212764G>A , CM000671.2:g.27212764G>A | GRCh38 |
| NC_000009.11:g.27212762G>A , CM000671.1:g.27212762G>A | GRCh37 |
| NC_000009.10:g.27202762G>A | NCBI36 |
| NG_011828.1:g.108616G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380036.10:c.2744G>A MANE Select | ENSP00000369375.4:p.Arg915His | |
| ENST00000380036.8:c.2744G>A | ENSP00000369375.4:p.Arg915His | |
| ENST00000406359.8:c.2615G>A | ENSP00000383977.4:p.Arg872His | |
| ENST00000519097.5:c.2300G>A | ENSP00000430686.1:p.Arg767His | |
| ENST00000615002.4:c.*1245G>A | ENSP00000480251.1:n.*1245G>A | |
| NM_000459.4:c.2744G>A | NP_000450.2:p.Arg915His | |
| NM_001290077.1:c.2615G>A | NP_001277006.1:p.Arg872His | |
| NM_001290078.1:c.2300G>A | NP_001277007.1:p.Arg767His | |
| XM_005251561.1:c.2741G>A | XP_005251618.1:p.Arg914His | |
| XM_005251563.1:c.2612G>A | XP_005251620.1:p.Arg871His | |
| XM_005251561.2:c.2741G>A | XP_005251618.1:p.Arg914His | |
| XM_005251563.2:c.2612G>A | XP_005251620.1:p.Arg871His | |
| NM_000459.5:c.2744G>A MANE Select | NP_000450.3:p.Arg915His | |
| NM_001375475.1:c.2741G>A | NP_001362404.1:p.Arg914His | |
| NM_001375476.1:c.2612G>A | NP_001362405.1:p.Arg871His |