Linked Data
ClinVar Variation Id:
474194
dbSNP Id:
rs374943200
ExAC:
8:42977556 G / T
gnomAD v2:
8-42977556-G-T
gnomAD v3:
8-43122413-G-T
gnomAD v4:
8-43122413-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122413G>T , CM000670.2:g.43122413G>T | GRCh38 |
| NC_000008.10:g.42977556G>T , CM000670.1:g.42977556G>T | GRCh37 |
| NC_000008.9:g.43096713G>T | NCBI36 |
| NG_033235.1:g.33908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.589G>T MANE Select | ENSP00000331258.5:p.Val197Leu | |
| ENST00000614426.2:c.*385G>T | ENSP00000478821.2:n.*385G>T | |
| ENST00000674646.1:c.307G>T | ENSP00000501703.1:p.Val103Leu | |
| ENST00000674676.1:c.307G>T | ENSP00000502544.1:p.Val103Leu | |
| ENST00000674782.1:c.*509G>T | ENSP00000501683.1:n.*509G>T | |
| ENST00000674937.1:c.547G>T | ENSP00000501823.1:p.Val183Leu | |
| ENST00000675322.1:c.307G>T | ENSP00000502235.1:p.Val103Leu | |
| ENST00000675675.1:c.307G>T | ENSP00000501793.1:p.Val103Leu | |
| ENST00000676178.1:c.*374G>T | ENSP00000502007.1:n.*374G>T | |
| ENST00000676193.1:c.589G>T | ENSP00000502774.1:p.Val197Leu | |
| ENST00000331373.9:c.589G>T | ENSP00000331258.5:p.Val197Leu | |
| ENST00000614426.1:c.589G>T | ENSP00000478821.1:p.Val197Leu | |
| NM_001277971.1:c.589G>T | NP_001264900.1:p.Val197Leu | |
| NM_032237.4:c.589G>T | NP_115613.1:p.Val197Leu | |
| XM_011544668.1:c.589G>T | XP_011542970.1:p.Val197Leu | |
| XM_011544669.1:c.589G>T | XP_011542971.1:p.Val197Leu | |
| NM_032237.5:c.589G>T MANE Select | NP_115613.1:p.Val197Leu | |
| NM_001277971.2:c.589G>T | NP_001264900.1:p.Val197Leu |