Linked Data
dbSNP Id:
rs1049717729
gnomAD v2:
X-115303777-T-A
gnomAD v3:
X-116172524-T-A
gnomAD v4:
X-116172524-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172524T>A , CM000685.2:g.116172524T>A | GRCh38 |
| NC_000023.10:g.115303777T>A , CM000685.1:g.115303777T>A | GRCh37 |
| NC_000023.9:g.115217805T>A | NCBI36 |
| NG_016326.1:g.6820T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.244T>A MANE Select | ENSP00000360973.4:p.Tyr82Asn | |
| ENST00000680409.1:n.712T>A | ||
| ENST00000681852.1:c.244T>A | ENSP00000505750.1:p.Tyr82Asn | |
| ENST00000371906.4:c.244T>A | ENSP00000360973.4:p.Tyr82Asn | |
| NM_000686.4:c.244T>A | NP_000677.2:p.Tyr82Asn | |
| XM_011537533.1:c.244T>A | XP_011535835.1:p.Tyr82Asn | |
| NM_000686.5:c.244T>A MANE Select | NP_000677.2:p.Tyr82Asn | |
| NM_001385624.1:c.244T>A | NP_001372553.1:p.Tyr82Asn |