Linked Data
dbSNP Id:
rs738792
ExAC:
22:24121378 C / T
gnomAD v2:
22-24121378-C-T
gnomAD v3:
22-23779191-C-T
gnomAD v4:
22-23779191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23779191C>T , CM000684.2:g.23779191C>T | GRCh38 |
| NC_000022.10:g.24121378C>T , CM000684.1:g.24121378C>T | GRCh37 |
| NC_000022.9:g.22451378C>T | NCBI36 |
| NG_029443.1:g.11343C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215743.8:c.113C>T MANE Select | ENSP00000215743.3:p.Ala38Val | |
| ENST00000215743.7:c.113C>T | ENSP00000215743.3:p.Ala38Val | |
| ENST00000428253.1:c.113C>T | ENSP00000409860.1:p.Ala38Val | |
| ENST00000437086.5:c.113C>T | ENSP00000408070.1:p.Ala38Val | |
| ENST00000460352.1:n.173C>T | ||
| ENST00000465385.5:n.755C>T | ||
| ENST00000465730.1:n.138C>T | ||
| ENST00000477567.5:n.277C>T | ||
| ENST00000489582.5:n.139C>T | ||
| NM_005940.3:c.113C>T | NP_005931.2:p.Ala38Val | |
| NM_005940.4:c.113C>T | NP_005931.2:p.Ala38Val | |
| NR_133013.1:n.165C>T | ||
| NM_005940.5:c.113C>T MANE Select | NP_005931.2:p.Ala38Val | |
| NR_133013.2:n.135C>T |