Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48368549C>G , CM000675.2:g.48368549C>G | GRCh38 |
| NC_000013.10:g.48942685C>G , CM000675.1:g.48942685C>G | GRCh37 |
| NC_000013.9:g.47840686C>G | NCBI36 |
| NG_009009.1:g.69803C>G , LRG_517:g.69803C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1072C>G MANE Select | NP_000312.2:p.Arg358Gly |
| ENST00000267163.6:c.1072C>G MANE Select | ENSP00000267163.4:p.Arg358Gly |
| NM_000321.2:c.1072C>G , LRG_517t1:c.1072C>G | NP_000312.2:p.Arg358Gly |
| ENST00000267163.4:c.1072C>G | ENSP00000267163.4:p.Arg358Gly |
| ENST00000650461.1:c.1072C>G | ENSP00000497193.1:p.Arg358Gly |
| XM_011535171.1:c.811C>G | XP_011533473.1:p.Arg271Gly |
| XM_011535171.2:c.811C>G | XP_011533473.1:p.Arg271Gly |
| XR_002957522.1:n.122-3573G>C |