Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233224G>A , CM000667.2:g.55233224G>A | GRCh38 |
| NC_000005.9:g.54529052G>A , CM000667.1:g.54529052G>A | GRCh37 |
| NC_000005.8:g.54564809G>A | NCBI36 |
| NG_034201.1:g.5494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.300C>T MANE Select | ENSP00000282572.4:p.Asp100= | |
| ENST00000282572.4:c.300C>T | ENSP00000282572.4:p.Asp100= | |
| ENST00000501463.2:c.300C>T | ENSP00000422485.1:p.Asp100= | |
| NM_021147.4:c.300C>T | NP_066970.3:p.Asp100= | |
| NR_125346.1:n.494C>T | ||
| NR_125347.1:n.494C>T | ||
| NM_021147.5:c.300C>T MANE Select | NP_066970.3:p.Asp100= | |
| NR_125346.2:n.385C>T | ||
| NR_125347.2:n.385C>T |