gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097592T>G , CM000682.2:g.6097592T>G | GRCh38 |
| NC_000020.10:g.6078239T>G , CM000682.1:g.6078239T>G | GRCh37 |
| NC_000020.9:g.6026239T>G | NCBI36 |
| NG_016213.1:g.30953A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.889A>C | ENSP00000514127.1:p.Arg297= | |
| ENST00000699096.1:n.1351A>C | ||
| ENST00000699097.1:n.59A>C | ||
| ENST00000217289.9:c.889A>C MANE Select | ENSP00000217289.4:p.Arg297= | |
| ENST00000217289.8:c.889A>C | ENSP00000217289.4:p.Arg297= | |
| ENST00000536936.1:c.118A>C | ENSP00000441063.1:p.Arg40= | |
| NM_017671.4:c.889A>C | NP_060141.3:p.Arg297= | |
| XM_024451935.1:c.889A>C | XP_024307703.1:p.Arg297= | |
| NM_017671.5:c.889A>C MANE Select | NP_060141.3:p.Arg297= |