Linked Data
dbSNP Id:
rs376371918
gnomAD v2:
11-100922281-A-G
gnomAD v3:
11-101051550-A-G
gnomAD v4:
11-101051550-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101051550A>G , CM000673.2:g.101051550A>G | GRCh38 |
| NC_000011.9:g.100922281A>G , CM000673.1:g.100922281A>G | GRCh37 |
| NC_000011.8:g.100427491A>G | NCBI36 |
| NG_016475.1:g.83264T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.2231T>C MANE Select | ENSP00000325120.5:p.Ile744Thr | |
| ENST00000263463.9:c.1925T>C | ENSP00000263463.5:p.Ile642Thr | |
| ENST00000325455.9:c.2231T>C | ENSP00000325120.5:p.Ile744Thr | |
| ENST00000526300.5:c.1925T>C | ENSP00000436803.1:p.Ile642Thr | |
| ENST00000528960.5:c.2114T>C | ENSP00000432914.1:p.Ile705Thr | |
| ENST00000533207.5:n.1598T>C | ||
| ENST00000534013.5:c.449T>C | ENSP00000436561.1:p.Ile150Thr | |
| ENST00000534780.5:c.2231T>C | ENSP00000432352.1:p.Ile744Thr | |
| ENST00000617858.4:c.1925T>C | ENSP00000481227.1:p.Ile642Thr | |
| ENST00000619228.2:c.2114T>C | ENSP00000482698.1:p.Ile705Thr | |
| NM_000926.4:c.2231T>C MANE Select | NP_000917.3:p.Ile744Thr | |
| NM_001202474.3:c.1739T>C | NP_001189403.1:p.Ile580Thr | |
| NM_001271161.2:c.1433T>C | NP_001258090.1:p.Ile478Thr | |
| NM_001271162.1:c.449T>C | NP_001258091.1:p.Ile150Thr | |
| NR_073141.2:n.2224T>C | ||
| NR_073142.2:n.2107T>C | ||
| NR_073143.2:n.1918T>C | ||
| XM_006718858.2:c.2231T>C | XP_006718921.1:p.Ile744Thr | |
| XR_947831.1:n.3912T>C | ||
| XM_006718858.3:c.2231T>C | XP_006718921.1:p.Ile744Thr | |
| NM_001271162.2:c.449T>C | NP_001258091.1:p.Ile150Thr | |
| NR_073141.3:n.2238T>C | ||
| NR_073142.3:n.2121T>C | ||
| NR_073143.3:n.1932T>C |