Linked Data
dbSNP Id:
rs772864076
ExAC:
15:48812884 G / T
gnomAD v2:
15-48812884-G-T
gnomAD v4:
15-48520687-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48520687G>T , CM000677.2:g.48520687G>T | GRCh38 |
| NC_000015.9:g.48812884G>T , CM000677.1:g.48812884G>T | GRCh37 |
| NC_000015.8:g.46600176G>T | NCBI36 |
| NG_008805.2:g.130102C>A , LRG_778:g.130102C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1119C>A | ENSP00000453958.2:p.Ala373= | |
| ENST00000674301.2:c.1119C>A | ENSP00000501333.2:p.Ala373= | |
| ENST00000316623.10:c.1119C>A MANE Select | ENSP00000325527.5:p.Ala373= | |
| ENST00000316623.9:c.1119C>A | ENSP00000325527.5:p.Ala373= | |
| ENST00000537463.6:c.636+17024C>A | ENSP00000440294.2:n.636+17024C>A | |
| NM_000138.4:c.1119C>A , LRG_778t1:c.1119C>A | NP_000129.3:p.Ala373= | |
| NM_000138.5:c.1119C>A MANE Select | NP_000129.3:p.Ala373= |