Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6025624A>G , CM000674.2:g.6025624A>G | GRCh38 |
| NC_000012.11:g.6134790A>G , CM000674.1:g.6134790A>G | GRCh37 |
| NC_000012.10:g.6005051A>G | NCBI36 |
| NG_009072.1:g.104047T>C | |
| NG_009072.2:g.104047T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3178T>C MANE Select | ENSP00000261405.5:p.Cys1060Arg | |
| ENST00000261405.9:c.3178T>C | ENSP00000261405.5:p.Cys1060Arg | |
| ENST00000538635.5:n.421-31690T>C | ||
| NM_000552.3:c.3178T>C | NP_000543.2:p.Cys1060Arg | |
| NM_000552.4:c.3178T>C | NP_000543.2:p.Cys1060Arg | |
| NM_000552.5:c.3178T>C MANE Select | NP_000543.3:p.Cys1060Arg |