Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48463758T>C , CM000675.2:g.48463758T>C | GRCh38 |
| NC_000013.10:g.49037894T>C , CM000675.1:g.49037894T>C | GRCh37 |
| NC_000013.9:g.47935895T>C | NCBI36 |
| NG_009009.1:g.165012T>C , LRG_517:g.165012T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2134T>C MANE Select | NP_000312.2:p.Cys712Arg |
| ENST00000267163.6:c.2134T>C MANE Select | ENSP00000267163.4:p.Cys712Arg |
| NM_000321.2:c.2134T>C , LRG_517t1:c.2134T>C | NP_000312.2:p.Cys712Arg |
| ENST00000267163.4:c.2134T>C | ENSP00000267163.4:p.Cys712Arg |
| ENST00000643064.1:c.194+82315T>C | |
| ENST00000650461.1:c.2134T>C | ENSP00000497193.1:p.Cys712Arg |
| XM_011535171.1:c.1873T>C | XP_011533473.1:p.Cys625Arg |
| XM_011535171.2:c.1873T>C | XP_011533473.1:p.Cys625Arg |