Linked Data
dbSNP Id:
rs748971777
ExAC:
14:20925282 C / G
gnomAD v2:
14-20925282-C-G
gnomAD v4:
14-20457123-C-G
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457123C>G , CM000676.2:g.20457123C>G | GRCh38 |
| NC_000014.8:g.20925282C>G , CM000676.1:g.20925282C>G | GRCh37 |
| NC_000014.7:g.19995122C>G | NCBI36 |
| NG_008718.1:g.6993C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.572C>G MANE Select | ENSP00000216714.3:p.Ala191Gly | |
| ENST00000216714.7:c.572C>G | ENSP00000216714.3:p.Ala191Gly | |
| ENST00000398030.8:c.572C>G | ENSP00000381111.4:p.Ala191Gly | |
| ENST00000438886.1:c.352C>G | ||
| ENST00000553555.5:n.992C>G | ||
| ENST00000553681.5:c.572C>G | ENSP00000451327.1:p.Ala191Gly | |
| ENST00000554813.5:n.638C>G | ||
| ENST00000555414.5:c.572C>G | ENSP00000451979.1:p.Ala191Gly | |
| ENST00000555839.5:c.485C>G | ENSP00000452460.1:p.Ala162Gly | |
| ENST00000557054.1:c.28C>G | ENSP00000452212.2:p.Pro10Ala | |
| ENST00000557159.5:n.1188C>G | ||
| ENST00000557365.1:n.652C>G | ||
| NM_001244249.1:c.572C>G | NP_001231178.1:p.Ala191Gly | |
| NM_001641.3:c.572C>G | NP_001632.2:p.Ala191Gly | |
| NM_080648.2:c.572C>G | NP_542379.1:p.Ala191Gly | |
| NM_080649.2:c.572C>G | NP_542380.1:p.Ala191Gly | |
| XM_005267581.3:c.572C>G | XP_005267638.1:p.Ala191Gly | |
| XM_005267582.3:c.521C>G | XP_005267639.1:p.Ala174Gly | |
| NM_001641.4:c.572C>G MANE Select | NP_001632.2:p.Ala191Gly | |
| NM_001244249.2:c.572C>G | NP_001231178.1:p.Ala191Gly | |
| NM_080648.3:c.572C>G | NP_542379.1:p.Ala191Gly | |
| NM_080649.3:c.572C>G | NP_542380.1:p.Ala191Gly |