Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31862102T>G , CM000668.2:g.31862102T>G | GRCh38 |
| NC_000006.11:g.31829879T>G , CM000668.1:g.31829879T>G | GRCh37 |
| NC_000006.10:g.31937858T>G | NCBI36 |
| NG_008201.1:g.5831A>C | |
| NG_023058.1:g.21945A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000434.4:c.249A>C MANE Select | NP_000425.1:p.Thr83= |
| ENST00000375631.5:c.249A>C MANE Select | ENSP00000364782.4:p.Thr83= |
| NM_000434.3:c.249A>C | NP_000425.1:p.Thr83= |
| ENST00000375631.4:c.249A>C | ENSP00000364782.4:p.Thr83= |
| ENST00000480384.1:n.278A>C | |
| ENST00000491768.5:c.249A>C | ENSP00000433127.1:p.Thr83= |
| ENST00000495807.1:n.269A>C | |
| ENST00000677054.1:n.378A>C | |
| ENST00000677512.1:n.357A>C | |
| ENST00000678869.1:n.357A>C |