Linked Data
ClinVar Variation Id:
13101
dbSNP Id:
rs137853291
ExAC:
15:89754981 A / T
gnomAD v2:
15-89754981-A-T
gnomAD v3:
15-89211750-A-T
gnomAD v4:
15-89211750-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89211750A>T , CM000677.2:g.89211750A>T | GRCh38 |
| NC_000015.9:g.89754981A>T , CM000677.1:g.89754981A>T | GRCh37 |
| NC_000015.8:g.87555985A>T | NCBI36 |
| NG_008116.1:g.14942T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268125.10:c.677T>A MANE Select | ENSP00000268125.5:p.Met226Lys | |
| ENST00000268125.9:c.677T>A | ENSP00000268125.5:p.Met226Lys | |
| ENST00000563254.1:c.94T>A | ||
| ENST00000567787.1:c.*255T>A | ENSP00000457251.1:n.*255T>A | |
| NM_000326.4:c.677T>A | NP_000317.1:p.Met226Lys | |
| XM_011521870.1:c.677T>A | XP_011520172.1:p.Met226Lys | |
| XM_011521871.1:c.602T>A | XP_011520173.1:p.Met201Lys | |
| XM_011521872.1:c.602T>A | XP_011520174.1:p.Met201Lys | |
| XM_011521870.2:c.677T>A | XP_011520172.1:p.Met226Lys | |
| XM_017022460.1:c.704T>A | XP_016877949.1:p.Met235Lys | |
| NM_000326.5:c.677T>A MANE Select | NP_000317.1:p.Met226Lys |