Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2249478G>C , CM000681.2:g.2249478G>C | GRCh38 |
| NC_000019.9:g.2249477G>C , CM000681.1:g.2249477G>C | GRCh37 |
| NC_000019.8:g.2200477G>C | NCBI36 |
| NG_012190.1:g.5365G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000479.5:c.146G>C MANE Select | NP_000470.3:p.Ser49Thr |
| ENST00000221496.5:c.146G>C MANE Select | ENSP00000221496.2:p.Ser49Thr |
| NM_000479.3:c.146G>C | NP_000470.2:p.Ser49Thr |
| NM_000479.4:c.146G>C | NP_000470.2:p.Ser49Thr |
| ENST00000221496.4:c.146G>C | ENSP00000221496.2:p.Ser49Thr |
| ENST00000592877.1:n.170G>C |