gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55493201G>C , CM000678.2:g.55493201G>C | GRCh38 |
| NC_000016.9:g.55527113G>C , CM000678.1:g.55527113G>C | GRCh37 |
| NC_000016.8:g.54084614G>C | NCBI36 |
| NG_008989.1:g.19033G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.1380G>C MANE Select | ENSP00000219070.4:p.Thr460= | |
| ENST00000219070.8:c.1380G>C | ENSP00000219070.4:p.Thr460= | |
| ENST00000437642.6:c.1230G>C | ENSP00000394237.2:p.Thr410= | |
| ENST00000543485.5:c.1152G>C | ENSP00000444143.1:p.Thr384= | |
| ENST00000570283.1:c.255G>C | ENSP00000456518.1:p.Thr85= | |
| ENST00000570308.5:c.1152G>C | ENSP00000461421.1:p.Thr384= | |
| NM_001127891.2:c.1230G>C | NP_001121363.1:p.Thr410= | |
| NM_001302508.1:c.1152G>C | NP_001289437.1:p.Thr384= | |
| NM_001302509.1:c.1152G>C | NP_001289438.1:p.Thr384= | |
| NM_001302510.1:c.1152G>C | NP_001289439.1:p.Thr384= | |
| NM_004530.5:c.1380G>C | NP_004521.1:p.Thr460= | |
| NM_004530.6:c.1380G>C MANE Select | NP_004521.1:p.Thr460= | |
| NM_001127891.3:c.1230G>C | NP_001121363.1:p.Thr410= | |
| NM_001302509.2:c.1152G>C | NP_001289438.1:p.Thr384= | |
| NM_001302510.2:c.1152G>C | NP_001289439.1:p.Thr384= |