Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689437T>C , CM000667.2:g.74689437T>C | GRCh38 |
| NC_000005.9:g.73985262T>C , CM000667.1:g.73985262T>C | GRCh37 |
| NC_000005.8:g.74021018T>C | NCBI36 |
| NG_009770.1:g.9294T>C | |
| NG_009770.2:g.54415T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.409T>C MANE Select | NP_000512.2:p.Cys137Arg |
| ENST00000261416.12:c.409T>C MANE Select | ENSP00000261416.7:p.Cys137Arg |
| NM_000521.3:c.409T>C | NP_000512.1:p.Cys137Arg |
| NM_001292004.1:c.-267T>C | NP_001278933.1:n.-267T>C |
| NM_001292004.2:c.-267T>C | NP_001278933.1:n.-267T>C |
| ENST00000261416.11:c.409T>C | ENSP00000261416.7:p.Cys137Arg |
| ENST00000511181.5:c.-267T>C | ENSP00000426285.1:n.-267T>C |
| ENST00000513079.5:n.474T>C | |
| ENST00000515528.1:n.464T>C |