Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160553563A>G , CM000668.2:g.160553563A>G | GRCh38 |
| NC_000006.11:g.160974595A>G , CM000668.1:g.160974595A>G | GRCh37 |
| NC_000006.10:g.160894585A>G | NCBI36 |
| NG_016147.1:g.117813T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316300.10:c.4973+2462T>C MANE Select | ENSP00000321334.6:n.4973+2462T>C | |
| ENST00000316300.9:c.4973+2462T>C | ENSP00000321334.5:n.4973+2462T>C | |
| NM_005577.2:c.4973+2462T>C | NP_005568.2:n.4973+2462T>C | |
| NM_005577.3:c.4973+2462T>C | NP_005568.2:n.4973+2462T>C | |
| NM_005577.4:c.4973+2462T>C MANE Select | NP_005568.2:n.4973+2462T>C |