Linked Data
dbSNP Id:
rs567567497
ExAC:
14:20925325 T / G
gnomAD v2:
14-20925325-T-G
gnomAD v4:
14-20457166-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457166T>G , CM000676.2:g.20457166T>G | GRCh38 |
| NC_000014.8:g.20925325T>G , CM000676.1:g.20925325T>G | GRCh37 |
| NC_000014.7:g.19995165T>G | NCBI36 |
| NG_008718.1:g.7036T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.615T>G MANE Select | ENSP00000216714.3:p.Leu205= | |
| ENST00000216714.7:c.615T>G | ENSP00000216714.3:p.Leu205= | |
| ENST00000398030.8:c.615T>G | ENSP00000381111.4:p.Leu205= | |
| ENST00000438886.1:c.395T>G | ||
| ENST00000553555.5:n.1035T>G | ||
| ENST00000553681.5:c.615T>G | ENSP00000451327.1:p.Leu205= | |
| ENST00000555414.5:c.615T>G | ENSP00000451979.1:p.Leu205= | |
| ENST00000555839.5:c.528T>G | ENSP00000452460.1:p.Leu176= | |
| ENST00000557054.1:c.*26T>G | ENSP00000452212.2:n.*26T>G | |
| ENST00000557159.5:n.1231T>G | ||
| ENST00000557365.1:n.695T>G | ||
| NM_001244249.1:c.615T>G | NP_001231178.1:p.Leu205= | |
| NM_001641.3:c.615T>G | NP_001632.2:p.Leu205= | |
| NM_080648.2:c.615T>G | NP_542379.1:p.Leu205= | |
| NM_080649.2:c.615T>G | NP_542380.1:p.Leu205= | |
| XM_005267581.3:c.615T>G | XP_005267638.1:p.Leu205= | |
| XM_005267582.3:c.564T>G | XP_005267639.1:p.Leu188= | |
| NM_001641.4:c.615T>G MANE Select | NP_001632.2:p.Leu205= | |
| NM_001244249.2:c.615T>G | NP_001231178.1:p.Leu205= | |
| NM_080648.3:c.615T>G | NP_542379.1:p.Leu205= | |
| NM_080649.3:c.615T>G | NP_542380.1:p.Leu205= |