Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837689T>C , CM000685.2:g.154837689T>C | GRCh38 |
| NC_000023.10:g.154065964T>C , CM000685.1:g.154065964T>C | GRCh37 |
| NC_000023.9:g.153719158T>C | NCBI36 |
| NG_011403.1:g.190035A>G | |
| NG_033065.1:g.1974A>G | |
| NG_011403.2:g.190035A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6964A>G MANE Select | NP_000123.1:p.Thr2322Ala |
| ENST00000360256.9:c.6964A>G MANE Select | ENSP00000353393.4:p.Thr2322Ala |
| NM_000132.3:c.6964A>G | NP_000123.1:p.Thr2322Ala |
| NM_019863.2:c.559A>G | NP_063916.1:p.Thr187Ala |
| NM_019863.3:c.559A>G | NP_063916.1:p.Thr187Ala |
| ENST00000330287.10:c.559A>G | ENSP00000327895.6:p.Thr187Ala |
| ENST00000360256.8:c.6964A>G | ENSP00000353393.4:p.Thr2322Ala |
| ENST00000644698.1:c.697A>G | ENSP00000495706.1:p.Thr233Ala |
| XM_011531126.1:c.6859A>G | XP_011529428.1:p.Thr2287Ala |