Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48480043T>C , CM000675.2:g.48480043T>C | GRCh38 |
| NC_000013.10:g.49054179T>C , CM000675.1:g.49054179T>C | GRCh37 |
| NC_000013.9:g.47952180T>C | NCBI36 |
| NG_009009.1:g.181297T>C , LRG_517:g.181297T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2759T>C MANE Select | NP_000312.2:p.Met920Thr |
| ENST00000267163.6:c.2759T>C MANE Select | ENSP00000267163.4:p.Met920Thr |
| NM_000321.2:c.2759T>C , LRG_517t1:c.2759T>C | NP_000312.2:p.Met920Thr |
| ENST00000267163.4:c.2759T>C | ENSP00000267163.4:p.Met920Thr |
| ENST00000484879.1:n.493T>C | |
| ENST00000531171.5:n.362T>C | |
| ENST00000643064.1:c.194+98600T>C | |
| ENST00000650461.1:c.*6T>C | ENSP00000497193.1:n.*6T>C |
| XM_011535171.1:c.2498T>C | XP_011533473.1:p.Met833Thr |
| XM_011535171.2:c.2498T>C | XP_011533473.1:p.Met833Thr |