Linked Data
ClinVar Variation Id:
510677
ClinVar RCV Id:
RCV002420616
dbSNP Id:
rs1354885005
gnomAD v2:
15-73616452-C-T
gnomAD v3:
15-73324111-C-T
gnomAD v4:
15-73324111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73324111C>T , CM000677.2:g.73324111C>T | GRCh38 |
| NC_000015.9:g.73616452C>T , CM000677.1:g.73616452C>T | GRCh37 |
| NC_000015.8:g.71403505C>T | NCBI36 |
| NG_009063.1:g.50154G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2121G>A MANE Select | ENSP00000261917.3:p.Ala707= | |
| ENST00000261917.3:c.2121G>A | ENSP00000261917.3:p.Ala707= | |
| NM_005477.2:c.2121G>A | NP_005468.1:p.Ala707= | |
| XM_011521148.1:c.903G>A | XP_011519450.1:p.Ala301= | |
| XM_011521148.2:c.903G>A | XP_011519450.1:p.Ala301= | |
| NM_005477.3:c.2121G>A MANE Select | NP_005468.1:p.Ala707= |