gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19765095T>C , CM000684.2:g.19765095T>C | GRCh38 |
| NC_000022.10:g.19752618T>C , CM000684.1:g.19752618T>C | GRCh37 |
| NC_000022.9:g.18132618T>C | NCBI36 |
| NG_009229.1:g.13393T>C , LRG_226:g.13393T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700274.1:c.375T>C | ENSP00000514909.1:p.Thr125= | |
| ENST00000649276.2:c.849T>C MANE Select | ENSP00000497003.1:p.Thr283= | |
| ENST00000329705.11:c.822T>C | ENSP00000331176.7:p.Thr274= | |
| ENST00000332710.8:c.822T>C | ENSP00000331791.4:p.Thr274= | |
| ENST00000359500.7:c.822T>C | ENSP00000352483.3:p.Thr274= | |
| ENST00000484336.1:n.17T>C | ||
| ENST00000621939.1:c.822T>C | ENSP00000477982.1:p.Thr274= | |
| NM_005992.1:c.822T>C | NP_005983.1:p.Thr274= | |
| NM_080646.1:c.822T>C | NP_542377.1:p.Thr274= | |
| NM_080647.1:c.822T>C , LRG_226t1:c.822T>C | NP_542378.1:p.Thr274= | |
| XM_006724312.1:c.822T>C | XP_006724375.1:p.Thr274= | |
| XM_011530351.1:c.849T>C | XP_011528653.1:p.Thr283= | |
| XM_006724312.2:c.822T>C | XP_006724375.1:p.Thr274= | |
| XM_017028925.1:c.972T>C | XP_016884414.1:p.Thr324= | |
| XM_017028926.1:c.822T>C | XP_016884415.1:p.Thr274= | |
| XM_017028927.1:c.123T>C | XP_016884416.1:p.Thr41= | |
| XM_017028928.1:c.972T>C | XP_016884417.1:p.Thr324= | |
| NM_001379200.1:c.849T>C MANE Select | NP_001366129.1:p.Thr283= | |
| NM_080646.2:c.822T>C | NP_542377.1:p.Thr274= |