Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151663516G>C , CM000667.2:g.151663516G>C | GRCh38 |
| NC_000005.9:g.151043077G>C , CM000667.1:g.151043077G>C | GRCh37 |
| NC_000005.8:g.151023270G>C | NCBI36 |
| NG_042174.1:g.28539C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003118.4:c.*55C>G MANE Select | NP_003109.1:n.*55C>G |
| ENST00000231061.9:c.*55C>G MANE Select | ENSP00000231061.4:n.*55C>G |
| NM_001309443.1:c.*55C>G | NP_001296372.1:n.*55C>G |
| NM_001309443.2:c.*55C>G | NP_001296372.1:n.*55C>G |
| NM_001309444.1:c.965C>G | NP_001296373.1:p.Pro322Arg |
| NM_001309444.2:c.965C>G | NP_001296373.1:p.Pro322Arg |
| NM_003118.3:c.*55C>G | NP_003109.1:n.*55C>G |
| ENST00000231061.8:c.*55C>G | ENSP00000231061.4:n.*55C>G |
| ENST00000520687.1:n.570C>G |