Linked Data
dbSNP Id:
rs746944921
ExAC:
14:20925381 A / G
gnomAD v2:
14-20925381-A-G
gnomAD v3:
14-20457222-A-G
gnomAD v4:
14-20457222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457222A>G , CM000676.2:g.20457222A>G | GRCh38 |
| NC_000014.8:g.20925381A>G , CM000676.1:g.20925381A>G | GRCh37 |
| NC_000014.7:g.19995221A>G | NCBI36 |
| NG_008718.1:g.7092A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.671A>G MANE Select | ENSP00000216714.3:p.Lys224Arg | |
| ENST00000216714.7:c.671A>G | ENSP00000216714.3:p.Lys224Arg | |
| ENST00000398030.8:c.671A>G | ENSP00000381111.4:p.Lys224Arg | |
| ENST00000438886.1:c.451A>G | ||
| ENST00000553555.5:n.1091A>G | ||
| ENST00000553681.5:c.671A>G | ENSP00000451327.1:p.Lys224Arg | |
| ENST00000555414.5:c.671A>G | ENSP00000451979.1:p.Lys224Arg | |
| ENST00000555839.5:c.584A>G | ENSP00000452460.1:p.Lys195Arg | |
| ENST00000557054.1:c.*82A>G | ENSP00000452212.2:n.*82A>G | |
| ENST00000557159.5:n.1287A>G | ||
| ENST00000557365.1:n.751A>G | ||
| NM_001244249.1:c.671A>G | NP_001231178.1:p.Lys224Arg | |
| NM_001641.3:c.671A>G | NP_001632.2:p.Lys224Arg | |
| NM_080648.2:c.671A>G | NP_542379.1:p.Lys224Arg | |
| NM_080649.2:c.671A>G | NP_542380.1:p.Lys224Arg | |
| XM_005267581.3:c.671A>G | XP_005267638.1:p.Lys224Arg | |
| XM_005267582.3:c.620A>G | XP_005267639.1:p.Lys207Arg | |
| NM_001641.4:c.671A>G MANE Select | NP_001632.2:p.Lys224Arg | |
| NM_001244249.2:c.671A>G | NP_001231178.1:p.Lys224Arg | |
| NM_080648.3:c.671A>G | NP_542379.1:p.Lys224Arg | |
| NM_080649.3:c.671A>G | NP_542380.1:p.Lys224Arg |