Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150984013C>G , CM000663.2:g.150984013C>G | GRCh38 |
| NC_000001.10:g.150956489C>G , CM000663.1:g.150956489C>G | GRCh37 |
| NC_000001.9:g.149223113C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003568.3:c.211C>G MANE Select | NP_003559.2:p.Arg71Gly |
| ENST00000368947.9:c.211C>G MANE Select | ENSP00000357943.4:p.Arg71Gly |
| NM_003568.2:c.211C>G | NP_003559.2:p.Arg71Gly |
| ENST00000368947.8:c.211C>G | ENSP00000357943.4:p.Arg71Gly |
| ENST00000474997.1:n.364C>G | |
| XM_005245539.3:c.211C>G | XP_005245596.1:p.Arg71Gly |
| XM_011510058.1:c.211C>G | XP_011508360.1:p.Arg71Gly |
| XM_011510058.3:c.211C>G | XP_011508360.1:p.Arg71Gly |