Linked Data
dbSNP Id:
rs761722767
ExAC:
14:37132371 C / A
gnomAD v2:
14-37132371-C-A
gnomAD v4:
14-36663166-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663166C>A , CM000676.2:g.36663166C>A | GRCh38 |
| NC_000014.8:g.37132371C>A , CM000676.1:g.37132371C>A | GRCh37 |
| NC_000014.7:g.36202122C>A | NCBI36 |
| NG_013357.1:g.10599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.274C>A MANE Select | ENSP00000355245.6:p.Gln92Lys | |
| ENST00000361487.6:c.274C>A | ENSP00000355245.6:p.Gln92Lys | |
| ENST00000402703.6:c.274C>A | ENSP00000384817.2:p.Gln92Lys | |
| ENST00000554201.1:c.-288C>A | ENSP00000450434.1:n.-288C>A | |
| NM_006194.3:c.274C>A | NP_006185.1:p.Gln92Lys | |
| NM_001372076.1:c.274C>A MANE Select | NP_001359005.1:p.Gln92Lys | |
| NM_006194.4:c.274C>A | NP_006185.1:p.Gln92Lys |