Linked Data
ClinVar Variation Id:
295321
dbSNP Id:
rs886045928
gnomAD v2:
1-213046117-C-T
gnomAD v3:
1-212872775-C-T
gnomAD v4:
1-212872775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212872775C>T , CM000663.2:g.212872775C>T | GRCh38 |
| NC_000001.10:g.213046117C>T , CM000663.1:g.213046117C>T | GRCh37 |
| NC_000001.9:g.211112740C>T | NCBI36 |
| NG_028131.1:g.19521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.981C>T MANE Select | ENSP00000355938.4:p.Asn327= | |
| ENST00000366971.8:c.981C>T | ENSP00000355938.4:p.Asn327= | |
| ENST00000419102.1:c.420+8906C>T | ||
| ENST00000474693.1:n.206C>T | ||
| NM_014053.3:c.981C>T | NP_054772.1:p.Asn327= | |
| XM_011509446.1:c.981C>T | XP_011507748.1:p.Asn327= | |
| XR_247024.1:n.1155C>T | ||
| XR_426771.1:n.1282C>T | ||
| XM_011509446.3:c.981C>T | XP_011507748.1:p.Asn327= | |
| XM_011509447.2:c.*125C>T | XP_011507749.1:n.*125C>T | |
| XR_247024.3:n.1155C>T | ||
| XR_426772.3:n.1270C>T | ||
| NM_014053.4:c.981C>T MANE Select | NP_054772.1:p.Asn327= |