Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645142A>G , CM000667.2:g.45645142A>G | GRCh38 |
| NC_000005.9:g.45645244A>G , CM000667.1:g.45645244A>G | GRCh37 |
| NC_000005.8:g.45681001A>G | NCBI36 |
| NG_042183.1:g.55977T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.849+43T>C MANE Select | ENSP00000307342.4:n.849+43T>C | |
| ENST00000637256.1:n.77+43T>C | ||
| ENST00000673735.1:c.849+43T>C | ENSP00000501107.1:n.849+43T>C | |
| ENST00000303230.5:c.849+43T>C | ENSP00000307342.4:n.849+43T>C | |
| ENST00000634658.1:c.*4T>C | ENSP00000489134.1:n.*4T>C | |
| NM_021072.3:c.849+43T>C | NP_066550.2:n.849+43T>C | |
| NM_021072.4:c.849+43T>C MANE Select | NP_066550.2:n.849+43T>C |