Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861405A>G , CM000668.2:g.31861405A>G | GRCh38 |
| NC_000006.11:g.31829182A>G , CM000668.1:g.31829182A>G | GRCh37 |
| NC_000006.10:g.31937161A>G | NCBI36 |
| NG_008201.1:g.6528T>C | |
| NG_023058.1:g.22642T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.398T>C MANE Select | ENSP00000364782.4:p.Val133Ala | |
| ENST00000677054.1:n.1075T>C | ||
| ENST00000677512.1:n.506T>C | ||
| ENST00000678869.1:n.506T>C | ||
| ENST00000375631.4:c.398T>C | ENSP00000364782.4:p.Val133Ala | |
| ENST00000480384.1:n.427T>C | ||
| ENST00000491768.5:c.398T>C | ENSP00000433127.1:p.Val133Ala | |
| ENST00000495807.1:n.966T>C | ||
| NM_000434.3:c.398T>C | NP_000425.1:p.Val133Ala | |
| NM_000434.4:c.398T>C MANE Select | NP_000425.1:p.Val133Ala |