Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240872991G>C , CM000664.2:g.240872991G>C | GRCh38 |
| NC_000002.11:g.241812408G>C , CM000664.1:g.241812408G>C | GRCh37 |
| NC_000002.10:g.241461081G>C | NCBI36 |
| NG_008005.1:g.9247G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.537G>C MANE Select | NP_000021.1:p.Leu179= |
| ENST00000307503.4:c.537G>C MANE Select | ENSP00000302620.3:p.Leu179= |
| NM_000030.2:c.537G>C | NP_000021.1:p.Leu179= |
| ENST00000307503.3:c.537G>C | ENSP00000302620.3:p.Leu179= |
| ENST00000472436.1:n.557G>C | |
| ENST00000476698.1:n.274G>C |