Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149579643G>C , CM000664.2:g.149579643G>C | GRCh38 |
| NC_000002.11:g.150436157G>C , CM000664.1:g.150436157G>C | GRCh37 |
| NC_000002.10:g.150144403G>C | NCBI36 |
| NG_009189.1:g.13174C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303319.10:c.160C>G MANE Select | ENSP00000301920.5:p.Arg54Gly | |
| ENST00000303319.9:c.160C>G | ENSP00000301920.5:p.Arg54Gly | |
| ENST00000422782.2:c.160C>G | ENSP00000408331.2:p.Arg54Gly | |
| ENST00000428879.5:c.160C>G | ENSP00000389060.1:p.Arg54Gly | |
| NM_015702.2:c.160C>G | NP_056517.1:p.Arg54Gly | |
| NM_015702.3:c.160C>G MANE Select | NP_056517.1:p.Arg54Gly |