Linked Data
ClinVar Variation Id:
196576
dbSNP Id:
rs35554630
ExAC:
2:27601843 G / A
gnomAD v2:
2-27601843-G-A
gnomAD v3:
2-27378976-G-A
gnomAD v4:
2-27378976-G-A
COSMIC:
COSM1565612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27378976G>A , CM000664.2:g.27378976G>A | GRCh38 |
| NC_000002.11:g.27601843G>A , CM000664.1:g.27601843G>A | GRCh37 |
| NC_000002.10:g.27455347G>A | NCBI36 |
| NG_028219.1:g.6769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323703.11:c.290C>T MANE Select | ENSP00000318373.6:p.Ala97Val | |
| ENST00000323703.10:c.290C>T | ENSP00000318373.6:p.Ala97Val | |
| ENST00000407879.1:c.104C>T | ENSP00000384874.1:p.Ala35Val | |
| ENST00000436006.1:c.104C>T | ENSP00000394226.1:p.Ala35Val | |
| ENST00000491924.1:n.18C>T | ||
| NM_001201459.1:c.104C>T | NP_001188388.1:p.Ala35Val | |
| NM_144631.5:c.290C>T | NP_653232.3:p.Ala97Val | |
| XM_005264142.1:c.104C>T | XP_005264199.1:p.Ala35Val | |
| XM_005264143.2:c.-109C>T | XP_005264200.1:n.-109C>T | |
| XM_005264142.2:c.104C>T | XP_005264199.1:p.Ala35Val | |
| XM_005264143.3:c.-109C>T | XP_005264200.1:n.-109C>T | |
| NM_144631.6:c.290C>T MANE Select | NP_653232.3:p.Ala97Val | |
| NM_001201459.2:c.104C>T | NP_001188388.1:p.Ala35Val |