Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31862690C>A , CM000668.2:g.31862690C>A | GRCh38 |
| NC_000006.11:g.31830467C>A , CM000668.1:g.31830467C>A | GRCh37 |
| NC_000006.10:g.31938446C>A | NCBI36 |
| NG_008201.1:g.5243G>T | |
| NG_023058.1:g.21357G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.87G>T MANE Select | NP_000425.1:p.Trp29Cys |
| ENST00000375631.5:c.87G>T MANE Select | ENSP00000364782.4:p.Trp29Cys |
| NM_000434.3:c.87G>T | NP_000425.1:p.Trp29Cys |
| ENST00000375631.4:c.87G>T | ENSP00000364782.4:p.Trp29Cys |
| ENST00000480384.1:n.116G>T | |
| ENST00000491768.5:c.87G>T | ENSP00000433127.1:p.Trp29Cys |
| ENST00000495807.1:n.107G>T | |
| ENST00000677054.1:n.216G>T | |
| ENST00000677512.1:n.195G>T | |
| ENST00000678869.1:n.195G>T |