Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57172789G>T , CM000668.2:g.57172789G>T | GRCh38 |
| NC_000006.11:g.57037587G>T , CM000668.1:g.57037587G>T | GRCh37 |
| NC_000006.10:g.57145546G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004282.4:c.92G>T MANE Select | NP_004273.1:p.Ser31Ile |
| ENST00000370693.5:c.92G>T MANE Select | ENSP00000359727.4:p.Ser31Ile |
| NM_004282.3:c.92G>T | NP_004273.1:p.Ser31Ile |
| XM_011514998.1:c.-201G>T | XP_011513300.1:n.-201G>T |
| XM_011514998.2:c.-201G>T | XP_011513300.1:n.-201G>T |