Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860588C= , CM000668.2:g.31860588C= | GRCh38 |
| NC_000006.11:g.31828365C= , CM000668.1:g.31828365C= | GRCh37 |
| NC_000006.10:g.31936344C= | NCBI36 |
| NG_008201.1:g.7345G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.649G= MANE Select | ENSP00000364782.4:p.Val217= | |
| ENST00000677054.1:n.1892G= | ||
| ENST00000677512.1:n.757G= | ||
| ENST00000678869.1:n.1323G= | ||
| ENST00000375631.4:c.649G= | ENSP00000364782.4:p.Val217= | |
| ENST00000480384.1:n.678G= | ||
| ENST00000491768.5:c.649G= | ENSP00000433127.1:p.Val217= | |
| ENST00000495807.1:n.1783G= | ||
| NM_000434.3:c.649G= | NP_000425.1:p.Val217= | |
| NM_000434.4:c.649G= MANE Select | NP_000425.1:p.Val217= |