Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859735A= , CM000668.2:g.31859735A= | GRCh38 |
| NC_000006.11:g.31827512A= , CM000668.1:g.31827512A= | GRCh37 |
| NC_000006.10:g.31935491A= | NCBI36 |
| NG_008201.1:g.8198T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1232T= MANE Select | ENSP00000364782.4:p.Val411= | |
| ENST00000677054.1:n.2571T= | ||
| ENST00000677512.1:n.1509T= | ||
| ENST00000678869.1:n.1820T= | ||
| ENST00000375631.4:c.1232T= | ENSP00000364782.4:p.Val411= | |
| ENST00000480384.1:n.1531T= | ||
| ENST00000491768.5:c.*342T= | ENSP00000433127.1:n.*342T= | |
| ENST00000495807.1:n.2540T= | ||
| NM_000434.3:c.1232T= | NP_000425.1:p.Val411= | |
| NM_000434.4:c.1232T= MANE Select | NP_000425.1:p.Val411= |