Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110412C>G , CM000670.2:g.118110412C>G | GRCh38 |
| NC_000008.10:g.119122651C>G , CM000670.1:g.119122651C>G | GRCh37 |
| NC_000008.9:g.119191832C>G | NCBI36 |
| NG_007455.2:g.6408G>C , LRG_493:g.6408G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.635G>C MANE Select | NP_000118.2:p.Gly212Ala |
| ENST00000378204.7:c.635G>C MANE Select | ENSP00000367446.3:p.Gly212Ala |
| NM_000127.2:c.635G>C , LRG_493t1:c.635G>C | NP_000118.2:p.Gly212Ala |
| ENST00000378204.6:c.635G>C | ENSP00000367446.2:p.Gly212Ala |
| ENST00000436216.1:c.3G>C | |
| ENST00000436216.2:c.3G>C | |
| ENST00000437196.1:c.73+562G>C | ENSP00000407299.1:n.73+562G>C |