Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868993T>G , CM000664.2:g.240868993T>G | GRCh38 |
| NC_000002.11:g.241808410T>G , CM000664.1:g.241808410T>G | GRCh37 |
| NC_000002.10:g.241457083T>G | NCBI36 |
| NG_008005.1:g.5249T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.128T>G MANE Select | ENSP00000302620.3:p.Leu43Arg | |
| ENST00000307503.3:c.128T>G | ENSP00000302620.3:p.Leu43Arg | |
| ENST00000472436.1:n.148T>G | ||
| NM_000030.2:c.128T>G | NP_000021.1:p.Leu43Arg | |
| XR_924060.1:n.405+1240A>C | ||
| NM_000030.3:c.128T>G MANE Select | NP_000021.1:p.Leu43Arg |