Linked Data
ClinVar Variation Id:
215218
dbSNP Id:
rs752623413
ExAC:
16:89623341 T / C
gnomAD v2:
16-89623341-T-C
gnomAD v3:
16-89556933-T-C
gnomAD v4:
16-89556933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89556933T>C , CM000678.2:g.89556933T>C | GRCh38 |
| NC_000016.9:g.89623341T>C , CM000678.1:g.89623341T>C | GRCh37 |
| NC_000016.8:g.88150842T>C | NCBI36 |
| NG_008082.1:g.53537T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2207T>C | ENSP00000268704.3:p.Ile736Thr | |
| ENST00000561702.6:n.2900T>C | ||
| ENST00000565891.2:c.252T>C | ENSP00000495004.1:n.252T>C | |
| ENST00000569720.2:n.911T>C | ||
| ENST00000569820.6:c.2501T>C | ||
| ENST00000642226.1:n.2291T>C | ||
| ENST00000642334.1:c.3646T>C | ||
| ENST00000642814.1:n.1643T>C | ||
| ENST00000642984.1:n.1951T>C | ||
| ENST00000643105.1:c.2934T>C | ||
| ENST00000643350.1:n.1642T>C | ||
| ENST00000643409.1:n.2653T>C | ||
| ENST00000643496.1:n.2045T>C | ||
| ENST00000643649.1:c.2117T>C | ENSP00000494806.1:p.Ile706Thr | |
| ENST00000643668.1:c.*2522T>C | ENSP00000494903.1:n.*2522T>C | |
| ENST00000643724.1:c.*1276T>C | ENSP00000496335.1:n.*1276T>C | |
| ENST00000643954.1:c.3127T>C | ||
| ENST00000644171.1:n.2988T>C | ||
| ENST00000644210.1:c.*800T>C | ENSP00000495675.1:n.*800T>C | |
| ENST00000644225.1:n.3767T>C | ||
| ENST00000644281.1:n.2912T>C | ||
| ENST00000644464.1:n.2403T>C | ||
| ENST00000644498.1:c.*2047T>C | ENSP00000496244.1:n.*2047T>C | |
| ENST00000644671.1:c.1885T>C | ||
| ENST00000644751.1:c.1416T>C | ||
| ENST00000644781.1:c.2183T>C | ENSP00000495473.1:p.Ile728Thr | |
| ENST00000644901.1:c.*2622T>C | ENSP00000493797.1:n.*2622T>C | |
| ENST00000645042.1:c.*1002T>C | ENSP00000493908.1:n.*1002T>C | |
| ENST00000645063.1:c.*6T>C | ENSP00000493590.1:n.*6T>C | |
| ENST00000645392.1:n.2569T>C | ||
| ENST00000645742.1:n.862T>C | ||
| ENST00000645818.2:c.2228T>C MANE Select | ENSP00000495795.2:p.Ile743Thr | |
| ENST00000645842.1:n.2073T>C | ||
| ENST00000645886.1:c.1733T>C | ||
| ENST00000645897.1:c.1766T>C | ENSP00000495293.1:p.Ile589Thr | |
| ENST00000645952.1:n.2258T>C | ||
| ENST00000645977.1:n.3346T>C | ||
| ENST00000646005.1:n.1986T>C | ||
| ENST00000646263.1:c.*1101T>C | ENSP00000494119.1:n.*1101T>C | |
| ENST00000646303.1:c.2096T>C | ENSP00000494160.1:p.Ile699Thr | |
| ENST00000646399.1:c.3122T>C | ||
| ENST00000646445.1:c.1086T>C | ||
| ENST00000646531.1:c.*851T>C | ENSP00000495185.1:n.*851T>C | |
| ENST00000646589.1:c.*1356T>C | ENSP00000494739.1:n.*1356T>C | |
| ENST00000646716.1:c.*6T>C | ENSP00000495593.1:n.*6T>C | |
| ENST00000646826.1:c.*901T>C | ENSP00000495123.1:n.*901T>C | |
| ENST00000646930.1:c.*2157T>C | ENSP00000495219.1:n.*2157T>C | |
| ENST00000647032.1:c.1859T>C | ||
| ENST00000647079.1:c.1820T>C | ENSP00000495967.1:p.Ile607Thr | |
| ENST00000647123.1:n.2185T>C | ||
| ENST00000647227.1:c.1866T>C | ||
| ENST00000647302.1:n.2878T>C | ||
| ENST00000647476.1:n.3438T>C | ||
| ENST00000647491.1:n.1972T>C | ||
| ENST00000268704.6:c.2228T>C | ENSP00000268704.2:p.Ile743Thr | |
| ENST00000561702.5:n.1213T>C | ||
| ENST00000561911.5:c.828T>C | ENSP00000457387.1:n.828T>C | |
| ENST00000565891.1:n.269T>C | ||
| ENST00000569720.1:n.419T>C | ||
| ENST00000569820.5:c.1470T>C | ||
| ENST00000620811.4:c.*274T>C | ENSP00000478030.1:n.*274T>C | |
| NM_003119.3:c.2228T>C | NP_003110.1:p.Ile743Thr | |
| XM_006721264.2:c.*6T>C | XP_006721327.1:n.*6T>C | |
| NM_001363850.1:c.*6T>C | NP_001350779.1:n.*6T>C | |
| XM_006721264.4:c.*6T>C | XP_006721327.1:n.*6T>C | |
| XR_001751971.2:n.2577T>C | ||
| XR_001751972.2:n.3864T>C | ||
| NM_003119.4:c.2228T>C MANE Select | NP_003110.1:p.Ile743Thr |