Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296985C>G , CM000664.2:g.29296985C>G | GRCh38 |
| NC_000002.11:g.29519851C>G , CM000664.1:g.29519851C>G | GRCh37 |
| NC_000002.10:g.29373355C>G | NCBI36 |
| NG_009445.1:g.629582G>C , LRG_488:g.629582G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1720G>C MANE Select | NP_004295.2:p.Gly574Arg |
| ENST00000389048.8:c.1720G>C MANE Select | ENSP00000373700.3:p.Gly574Arg |
| NM_004304.4:c.1720G>C | NP_004295.2:p.Gly574Arg |
| ENST00000389048.7:c.1720G>C | ENSP00000373700.3:p.Gly574Arg |
| ENST00000498037.1:n.275G>C | |
| ENST00000618119.4:c.589G>C | ENSP00000482733.1:p.Gly197Arg |
| XR_001738688.2:n.2650G>C |