Linked Data
ClinVar Variation Id:
287345
dbSNP Id:
rs140469160
ExAC:
2:110919181 G / A
gnomAD v2:
2-110919181-G-A
gnomAD v3:
2-110161604-G-A
gnomAD v4:
2-110161604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110161604G>A , CM000664.2:g.110161604G>A | GRCh38 |
| NC_000002.11:g.110919181G>A , CM000664.1:g.110919181G>A | GRCh37 |
| NC_000002.10:g.110276470G>A | NCBI36 |
| NG_008287.1:g.48459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.953C>T MANE Select | ENSP00000389879.3:p.Thr318Ile | |
| ENST00000674677.1:c.884C>T | ENSP00000502265.1:p.Thr295Ile | |
| ENST00000675067.1:c.152C>T | ENSP00000502817.1:p.Thr51Ile | |
| ENST00000675356.1:n.1441C>T | ||
| ENST00000675752.1:n.2538C>T | ||
| ENST00000676028.1:c.772-1349C>T | ENSP00000502639.1:n.772-1349C>T | |
| ENST00000676053.1:c.764C>T | ENSP00000502475.1:p.Thr255Ile | |
| ENST00000676091.1:c.151-1349C>T | ENSP00000502528.1:n.151-1349C>T | |
| ENST00000676165.1:n.2544C>T | ||
| ENST00000676258.1:n.2044C>T | ||
| ENST00000316534.8:c.1121C>T | ENSP00000313169.4:p.Thr374Ile | |
| ENST00000355301.8:c.764C>T | ENSP00000347452.4:p.Thr255Ile | |
| ENST00000393272.7:c.1118C>T | ENSP00000376953.3:p.Thr373Ile | |
| ENST00000417665.5:c.950C>T | ENSP00000402176.1:p.Thr317Ile | |
| ENST00000445609.6:c.953C>T | ENSP00000389879.2:p.Thr318Ile | |
| ENST00000461707.5:n.2538C>T | ||
| ENST00000496524.5:n.2554C>T | ||
| NM_000272.3:c.1121C>T | NP_000263.2:p.Thr374Ile | |
| NM_001128178.1:c.953C>T | NP_001121650.1:p.Thr318Ile | |
| NM_001128179.1:c.764C>T | NP_001121651.1:p.Thr255Ile | |
| NM_207181.2:c.1118C>T | NP_997064.2:p.Thr373Ile | |
| XM_005263675.1:c.1118C>T | XP_005263732.1:p.Thr373Ile | |
| XM_005263676.1:c.953C>T | XP_005263733.1:p.Thr318Ile | |
| XM_005263677.1:c.950C>T | XP_005263734.1:p.Thr317Ile | |
| XM_005263678.2:c.1121C>T | XP_005263735.1:p.Thr374Ile | |
| XM_005263679.1:c.950C>T | XP_005263736.1:p.Thr317Ile | |
| XM_006712551.1:c.1121C>T | XP_006712614.1:p.Thr374Ile | |
| XM_006712552.2:c.1121C>T | XP_006712615.1:p.Thr374Ile | |
| XM_011511244.1:c.1121C>T | XP_011509546.1:p.Thr374Ile | |
| XM_017004218.1:c.953C>T | XP_016859707.1:p.Thr318Ile | |
| NM_000272.4:c.1121C>T | NP_000263.2:p.Thr374Ile | |
| NM_001128178.3:c.953C>T MANE Select | NP_001121650.1:p.Thr318Ile | |
| NM_001128179.2:c.764C>T | NP_001121651.1:p.Thr255Ile | |
| NM_001374256.1:c.950C>T | NP_001361185.1:p.Thr317Ile | |
| NM_001374257.1:c.953C>T | NP_001361186.1:p.Thr318Ile | |
| NM_207181.3:c.1118C>T | NP_997064.2:p.Thr373Ile | |
| NM_000272.5:c.1121C>T | NP_000263.2:p.Thr374Ile | |
| NM_001128179.3:c.764C>T | NP_001121651.1:p.Thr255Ile | |
| NM_207181.4:c.1118C>T | NP_997064.2:p.Thr373Ile |