Linked Data
ClinVar Variation Id:
48127
ClinVar RCV Id:
RCV001799509
dbSNP Id:
rs397517925
ExAC:
17:72915558 T / A
gnomAD v2:
17-72915558-T-A
gnomAD v3:
17-74919463-T-A
gnomAD v4:
17-74919463-T-A
PubMed:
PMID:16283141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919463T>A , CM000679.2:g.74919463T>A | GRCh38 |
| NC_000017.10:g.72915558T>A , CM000679.1:g.72915558T>A | GRCh37 |
| NC_000017.9:g.70427153T>A | NCBI36 |
| NG_007882.1:g.8794A>T | |
| NG_033062.1:g.189T>A | |
| NG_007882.2:g.8801A>T | |
| NG_033062.2:g.189T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.1373A>T MANE Select | ENSP00000480279.1:p.Asp458Val | |
| ENST00000579243.1:c.*972A>T | ENSP00000462568.1:n.*972A>T | |
| ENST00000614341.4:c.1373A>T | ENSP00000480279.1:p.Asp458Val | |
| NM_001282489.2:c.1064A>T | NP_001269418.1:p.Asp355Val | |
| NM_173477.4:c.1373A>T | NP_775748.2:p.Asp458Val | |
| XM_011524296.1:c.1064A>T | XP_011522598.1:p.Asp355Val | |
| XM_011524296.2:c.1064A>T | XP_011522598.1:p.Asp355Val | |
| NM_173477.5:c.1373A>T MANE Select | NP_775748.2:p.Asp458Val | |
| NM_001282489.3:c.1064A>T | NP_001269418.1:p.Asp355Val |