Linked Data
ClinVar Variation Id:
232236
dbSNP Id:
rs760707493
ExAC:
16:68856036 T / C
gnomAD v2:
16-68856036-T-C
gnomAD v3:
16-68822133-T-C
gnomAD v4:
16-68822133-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68822133T>C , CM000678.2:g.68822133T>C | GRCh38 |
| NC_000016.9:g.68856036T>C , CM000678.1:g.68856036T>C | GRCh37 |
| NC_000016.8:g.67413537T>C | NCBI36 |
| NG_008021.1:g.89842T>C , LRG_301:g.89842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1844T>C MANE Select | ENSP00000261769.4:p.Ile615Thr | |
| ENST00000261769.9:c.1844T>C | ENSP00000261769.4:p.Ile615Thr | |
| ENST00000422392.6:c.1661T>C | ENSP00000414946.2:p.Ile554Thr | |
| ENST00000562836.5:n.1915T>C | ||
| ENST00000566510.5:c.*510T>C | ENSP00000458139.1:n.*510T>C | |
| ENST00000566612.5:c.*84T>C | ENSP00000454782.1:n.*84T>C | |
| ENST00000611625.4:c.1907T>C | ENSP00000481063.1:p.Ile636Thr | |
| ENST00000612417.4:c.1830+14T>C | ENSP00000478360.1:n.1830+14T>C | |
| ENST00000621016.4:c.1844T>C | ENSP00000480664.1:p.Ile615Thr | |
| NM_004360.3:c.1844T>C , LRG_301t1:c.1844T>C | NP_004351.1:p.Ile615Thr | |
| XM_011523488.1:c.1109T>C | XP_011521790.1:p.Ile370Thr | |
| XM_011523489.1:c.1109T>C | XP_011521791.1:p.Ile370Thr | |
| NM_001317184.1:c.1661T>C | NP_001304113.1:p.Ile554Thr | |
| NM_001317185.1:c.296T>C | NP_001304114.1:p.Ile99Thr | |
| NM_001317186.1:c.-122T>C | NP_001304115.1:n.-122T>C | |
| NM_004360.4:c.1844T>C | NP_004351.1:p.Ile615Thr | |
| NM_004360.5:c.1844T>C MANE Select | NP_004351.1:p.Ile615Thr | |
| NM_001317184.2:c.1661T>C | NP_001304113.1:p.Ile554Thr | |
| NM_001317185.2:c.296T>C | NP_001304114.1:p.Ile99Thr | |
| NM_001317186.2:c.-122T>C | NP_001304115.1:n.-122T>C |