Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85303411A>G , CM000685.2:g.85303411A>G | GRCh38 |
| NC_000023.10:g.84558417A>G , CM000685.1:g.84558417A>G | GRCh37 |
| NC_000023.9:g.84445073A>G | NCBI36 |
| NG_016358.1:g.81332T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024921.4:c.1644T>C MANE Select | NP_079197.3:p.Thr548= |
| ENST00000262753.9:c.1644T>C MANE Select | ENSP00000262753.4:p.Thr548= |
| NM_001307940.1:c.1644T>C | NP_001294869.1:p.Thr548= |
| NM_001307940.2:c.1644T>C | NP_001294869.1:p.Thr548= |
| NM_024921.3:c.1644T>C | NP_079197.3:p.Thr548= |
| ENST00000262753.8:c.1644T>C | ENSP00000262753.4:p.Thr548= |
| ENST00000373145.3:c.1644T>C | ENSP00000362238.3:p.Thr548= |
| XM_005262203.2:c.1599T>C | XP_005262260.1:p.Thr533= |
| XM_005262203.4:c.1599T>C | XP_005262260.1:p.Thr533= |