Linked Data
dbSNP Id:
rs768600681
ExAC:
14:20925301 G / A
gnomAD v2:
14-20925301-G-A
gnomAD v4:
14-20457142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457142G>A , CM000676.2:g.20457142G>A | GRCh38 |
| NC_000014.8:g.20925301G>A , CM000676.1:g.20925301G>A | GRCh37 |
| NC_000014.7:g.19995141G>A | NCBI36 |
| NG_008718.1:g.7012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.591G>A MANE Select | ENSP00000216714.3:p.Lys197= | |
| ENST00000216714.7:c.591G>A | ENSP00000216714.3:p.Lys197= | |
| ENST00000398030.8:c.591G>A | ENSP00000381111.4:p.Lys197= | |
| ENST00000438886.1:c.371G>A | ||
| ENST00000553555.5:n.1011G>A | ||
| ENST00000553681.5:c.591G>A | ENSP00000451327.1:p.Lys197= | |
| ENST00000555414.5:c.591G>A | ENSP00000451979.1:p.Lys197= | |
| ENST00000555839.5:c.504G>A | ENSP00000452460.1:p.Lys168= | |
| ENST00000557054.1:c.*2G>A | ENSP00000452212.2:n.*2G>A | |
| ENST00000557159.5:n.1207G>A | ||
| ENST00000557365.1:n.671G>A | ||
| NM_001244249.1:c.591G>A | NP_001231178.1:p.Lys197= | |
| NM_001641.3:c.591G>A | NP_001632.2:p.Lys197= | |
| NM_080648.2:c.591G>A | NP_542379.1:p.Lys197= | |
| NM_080649.2:c.591G>A | NP_542380.1:p.Lys197= | |
| XM_005267581.3:c.591G>A | XP_005267638.1:p.Lys197= | |
| XM_005267582.3:c.540G>A | XP_005267639.1:p.Lys180= | |
| NM_001641.4:c.591G>A MANE Select | NP_001632.2:p.Lys197= | |
| NM_001244249.2:c.591G>A | NP_001231178.1:p.Lys197= | |
| NM_080648.3:c.591G>A | NP_542379.1:p.Lys197= | |
| NM_080649.3:c.591G>A | NP_542380.1:p.Lys197= |