Linked Data
ClinVar Variation Id:
500699
dbSNP Id:
rs560640452
ExAC:
13:23853613 A / T
gnomAD v2:
13-23853613-A-T
gnomAD v3:
13-23279474-A-T
gnomAD v4:
13-23279474-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23279474A>T , CM000675.2:g.23279474A>T | GRCh38 |
| NC_000013.10:g.23853613A>T , CM000675.1:g.23853613A>T | GRCh37 |
| NC_000013.9:g.22751613A>T | NCBI36 |
| NG_008759.1:g.103554A>T , LRG_207:g.103554A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.501A>T MANE Select | ENSP00000218867.3:p.Val167= | |
| ENST00000218867.3:c.501A>T | ENSP00000218867.3:p.Val167= | |
| NM_000231.2:c.501A>T , LRG_207t1:c.501A>T | NP_000222.1:p.Val167= | |
| XM_005266505.2:c.501A>T | XP_005266562.1:p.Val167= | |
| XM_006719861.2:c.555A>T | XP_006719924.1:p.Val185= | |
| XM_006719861.3:c.555A>T | XP_006719924.1:p.Val185= | |
| XM_024449397.1:c.501A>T | XP_024305165.1:p.Val167= | |
| NM_000231.3:c.501A>T MANE Select | NP_000222.2:p.Val167= | |
| NM_001378244.1:c.555A>T | NP_001365173.1:p.Val185= | |
| NM_001378245.1:c.501A>T | NP_001365174.1:p.Val167= | |
| NM_001378246.1:c.501A>T | NP_001365175.1:p.Val167= |