Linked Data
ClinVar Variation Id:
2477277
ClinVar RCV Id:
RCV004269288
dbSNP Id:
rs369546518
ExAC:
1:161018319 G / A
gnomAD v2:
1-161018319-G-A
gnomAD v3:
1-161048529-G-A
gnomAD v4:
1-161048529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161048529G>A , CM000663.2:g.161048529G>A | GRCh38 |
| NC_000001.10:g.161018319G>A , CM000663.1:g.161018319G>A | GRCh37 |
| NC_000001.9:g.159284943G>A | NCBI36 |
| NG_011612.1:g.2439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368013.8:c.2492C>T MANE Select | ENSP00000356992.3:p.Ala831Val | |
| ENST00000368013.7:c.2492C>T | ENSP00000356992.3:p.Ala831Val | |
| ENST00000368015.1:c.1961C>T | ENSP00000356994.1:p.Ala654Val | |
| ENST00000368016.7:c.2033-174C>T | ENSP00000356995.3:n.2033-174C>T | |
| ENST00000461003.5:n.3274C>T | ||
| NM_001025598.1:c.2492C>T | NP_001020769.1:p.Ala831Val | |
| NM_001287600.1:c.2048C>T | NP_001274529.1:p.Ala683Val | |
| NM_001287602.1:c.1961C>T | NP_001274531.1:p.Ala654Val | |
| NM_181720.2:c.2033-174C>T | NP_859071.2:n.2033-174C>T | |
| XM_005245070.2:c.2321C>T | XP_005245127.1:p.Ala774Val | |
| XM_005245071.3:c.2048C>T | XP_005245128.1:p.Ala683Val | |
| XM_005245073.2:c.2048C>T | XP_005245130.1:p.Ala683Val | |
| XM_011509391.1:c.2048C>T | XP_011507693.1:p.Ala683Val | |
| XM_005245073.3:c.2048C>T | XP_005245130.1:p.Ala683Val | |
| XM_011509391.2:c.2048C>T | XP_011507693.1:p.Ala683Val | |
| XM_017000960.1:c.2090C>T | XP_016856449.1:p.Ala697Val | |
| NM_001025598.2:c.2492C>T MANE Select | NP_001020769.1:p.Ala831Val | |
| NM_001287600.2:c.2048C>T | NP_001274529.1:p.Ala683Val | |
| NM_001287602.2:c.1961C>T | NP_001274531.1:p.Ala654Val | |
| NM_181720.3:c.2033-174C>T | NP_859071.2:n.2033-174C>T |