Linked Data
dbSNP Id:
rs781817360
ExAC:
6:112390798 T / C
gnomAD v2:
6-112390798-T-C
gnomAD v3:
6-112069595-T-C
gnomAD v4:
6-112069595-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069595T>C , CM000668.2:g.112069595T>C | GRCh38 |
| NC_000006.11:g.112390798T>C , CM000668.1:g.112390798T>C | GRCh37 |
| NC_000006.10:g.112497491T>C | NCBI36 |
| NG_011748.1:g.20521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.1040T>C MANE Select | ENSP00000357655.4:p.Ile347Thr | |
| ENST00000639360.1:c.941T>C | ENSP00000491774.1:p.Ile314Thr | |
| ENST00000230529.9:c.1040T>C | ENSP00000230529.5:p.Ile347Thr | |
| ENST00000361714.5:c.1040T>C | ENSP00000354734.2:p.Ile347Thr | |
| ENST00000368663.4:c.*346T>C | ENSP00000357652.4:n.*346T>C | |
| ENST00000368664.7:c.*444T>C | ENSP00000357653.3:n.*444T>C | |
| ENST00000368666.6:c.1094T>C | ENSP00000357655.3:p.Ile365Thr | |
| ENST00000409166.5:c.368T>C | ENSP00000386467.1:p.Ile123Thr | |
| ENST00000454589.5:c.*444T>C | ENSP00000395928.1:n.*444T>C | |
| ENST00000604763.5:c.1040T>C | ENSP00000473777.1:p.Ile347Thr | |
| ENST00000613648.1:n.875T>C | ||
| ENST00000620524.3:n.971T>C | ||
| NM_003880.3:c.1040T>C | NP_003871.1:p.Ile347Thr | |
| NM_198239.1:c.1094T>C | NP_937882.1:p.Ile365Thr | |
| NR_125353.1:n.1294T>C | ||
| NR_125354.1:n.1214T>C | ||
| XM_011536220.1:c.1040T>C | XP_011534522.1:p.Ile347Thr | |
| XM_011536221.1:c.*444T>C | XP_011534523.1:n.*444T>C | |
| XM_011536223.1:c.458T>C | XP_011534525.1:p.Ile153Thr | |
| XM_011536223.3:c.458T>C | XP_011534525.1:p.Ile153Thr | |
| XR_001743705.1:n.1642T>C | ||
| NM_003880.4:c.1040T>C | NP_003871.1:p.Ile347Thr | |
| NM_198239.2:c.1040T>C MANE Select | NP_937882.2:p.Ile347Thr | |
| NR_125353.2:n.1358T>C | ||
| NR_125354.3:n.1185T>C |