Linked Data
ClinVar Variation Id:
2351528
ClinVar RCV Id:
RCV002973305
dbSNP Id:
rs143554082
ExAC:
2:48681849 C / T
gnomAD v2:
2-48681849-C-T
gnomAD v3:
2-48454710-C-T
gnomAD v4:
2-48454710-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48454710C>T , CM000664.2:g.48454710C>T | GRCh38 |
| NC_000002.11:g.48681849C>T , CM000664.1:g.48681849C>T | GRCh37 |
| NC_000002.10:g.48535353C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294952.13:c.242C>T MANE Select | ENSP00000294952.8:p.Ala81Val | |
| ENST00000281394.8:c.242C>T | ENSP00000281394.4:p.Ala81Val | |
| ENST00000294952.12:c.242C>T | ENSP00000294952.8:p.Ala81Val | |
| ENST00000416913.5:c.*116C>T | ENSP00000414130.1:n.*116C>T | |
| ENST00000421486.1:c.104C>T | ENSP00000410955.1:p.Ala35Val | |
| ENST00000431614.5:c.104C>T | ENSP00000406283.1:p.Ala35Val | |
| ENST00000449090.6:c.242C>T | ENSP00000415696.2:p.Ala81Val | |
| NM_001135629.2:c.242C>T | NP_001129101.1:p.Ala81Val | |
| NM_001193475.1:c.242C>T | NP_001180404.1:p.Ala81Val | |
| NM_152994.4:c.242C>T | NP_694539.1:p.Ala81Val | |
| NR_024188.2:n.466C>T | ||
| XR_939654.1:n.395C>T | ||
| XR_939655.1:n.395C>T | ||
| XM_017003301.1:c.-291C>T | XP_016858790.1:n.-291C>T | |
| XM_017003302.1:c.-291C>T | XP_016858791.1:n.-291C>T | |
| XR_001738608.1:n.395C>T | ||
| XR_001738609.1:n.395C>T | ||
| NM_001135629.3:c.242C>T MANE Select | NP_001129101.1:p.Ala81Val | |
| NM_152994.5:c.242C>T | NP_694539.1:p.Ala81Val | |
| NR_024188.3:n.469C>T | ||
| NM_001193475.2:c.242C>T | NP_001180404.1:p.Ala81Val |