Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878793T>C , CM000664.2:g.240878793T>C | GRCh38 |
| NC_000002.11:g.241818210T>C , CM000664.1:g.241818210T>C | GRCh37 |
| NC_000002.10:g.241466883T>C | NCBI36 |
| NG_008005.1:g.15049T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.1151T>C MANE Select | NP_000021.1:p.Leu384Pro |
| ENST00000307503.4:c.1151T>C MANE Select | ENSP00000302620.3:p.Leu384Pro |
| NM_000030.2:c.1151T>C | NP_000021.1:p.Leu384Pro |
| ENST00000307503.3:c.1151T>C | ENSP00000302620.3:p.Leu384Pro |
| ENST00000470255.1:n.929T>C |