gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23694701T>C , CM000663.2:g.23694701T>C | GRCh38 |
| NC_000001.10:g.24021191T>C , CM000663.1:g.24021191T>C | GRCh37 |
| NC_000001.9:g.23893778T>C | NCBI36 |
| NG_011741.1:g.7898T>C | |
| NG_011741.2:g.7923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374550.8:c.303T>C | ENSP00000363676.4:p.Thr101= | |
| ENST00000443624.6:n.324T>C | ||
| ENST00000458455.2:c.273T>C | ENSP00000398888.2:p.Thr91= | |
| ENST00000467075.2:c.*402T>C | ENSP00000493634.1:n.*402T>C | |
| ENST00000482370.2:n.300T>C | ||
| ENST00000643754.2:c.306T>C MANE Select | ENSP00000496250.1:p.Thr102= | |
| ENST00000374550.7:c.306T>C | ENSP00000363676.3:p.Thr102= | |
| ENST00000443624.5:c.300T>C | ENSP00000390839.1:p.Thr100= | |
| ENST00000458455.1:c.300T>C | ENSP00000398888.1:p.Thr100= | |
| ENST00000482370.1:n.603T>C | ||
| NM_000975.3:c.306T>C | NP_000966.2:p.Thr102= | |
| NM_001199802.1:c.303T>C | NP_001186731.1:p.Thr101= | |
| NM_000975.5:c.306T>C MANE Select | NP_000966.2:p.Thr102= |