Linked Data
ClinVar Variation Id:
41470
ClinVar RCV Id:
RCV000034355
dbSNP Id:
rs397514672
PubMed:
PMID:21834035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185866G>A , CM000679.2:g.50185866G>A | GRCh38 |
| NC_000017.10:g.48263227G>A , CM000679.1:g.48263227G>A | GRCh37 |
| NC_000017.9:g.45618226G>A | NCBI36 |
| NG_007400.1:g.20774C>T , LRG_1:g.20774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4160C>T MANE Select | ENSP00000225964.6:p.Ala1387Val | |
| ENST00000225964.9:c.4160C>T | ENSP00000225964.5:p.Ala1387Val | |
| ENST00000510710.3:n.1125C>T | ||
| NM_000088.3:c.4160C>T , LRG_1t1:c.4160C>T | NP_000079.2:p.Ala1387Val | |
| XM_005257058.3:c.3890C>T | XP_005257115.2:p.Ala1297Val | |
| XM_005257059.3:c.3242C>T | XP_005257116.2:p.Ala1081Val | |
| XM_011524341.1:c.3962C>T | XP_011522643.1:p.Ala1321Val | |
| XM_005257058.4:c.3890C>T | XP_005257115.2:p.Ala1297Val | |
| XM_005257059.4:c.3242C>T | XP_005257116.2:p.Ala1081Val | |
| NM_000088.4:c.4160C>T MANE Select | NP_000079.2:p.Ala1387Val |