Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394326C>G , CM000667.2:g.1394326C>G | GRCh38 |
| NC_000005.9:g.1394441C>G , CM000667.1:g.1394441C>G | GRCh37 |
| NC_000005.8:g.1447441C>G | NCBI36 |
| NG_015885.1:g.56103G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*409G>C MANE Select | ENSP00000270349.9:n.*409G>C | |
| ENST00000270349.11:c.*409G>C | ENSP00000270349.9:n.*409G>C | |
| ENST00000512002.2:n.653G>C | ||
| NM_001044.4:c.*409G>C | NP_001035.1:n.*409G>C | |
| NM_001044.5:c.*409G>C MANE Select | NP_001035.1:n.*409G>C |