Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192644344C>T , CM000663.2:g.192644344C>T | GRCh38 |
| NC_000001.10:g.192613474C>T , CM000663.1:g.192613474C>T | GRCh37 |
| NC_000001.9:g.190880097C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002927.5:c.10C>T MANE Select | NP_002918.1:p.Arg4Trp |
| ENST00000391995.7:c.10C>T MANE Select | ENSP00000375853.2:p.Arg4Trp |
| NM_002927.4:c.10C>T | NP_002918.1:p.Arg4Trp |
| NM_144766.2:c.10C>T | NP_658912.1:p.Arg4Trp |
| NM_144766.3:c.10C>T | NP_658912.1:p.Arg4Trp |
| ENST00000391995.6:c.10C>T | ENSP00000375853.2:p.Arg4Trp |
| ENST00000462955.1:n.258C>T | |
| ENST00000543215.5:c.10C>T | ENSP00000442837.1:p.Arg4Trp |