Linked Data
ClinVar Variation Id:
141844
dbSNP Id:
rs149055633
ExAC:
17:29679337 C / T
gnomAD v2:
17-29679337-C-T
gnomAD v3:
17-31352319-C-T
gnomAD v4:
17-31352319-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31352319C>T , CM000679.2:g.31352319C>T | GRCh38 |
| NC_000017.10:g.29679337C>T , CM000679.1:g.29679337C>T | GRCh37 |
| NC_000017.9:g.26703463C>T | NCBI36 |
| NG_009018.1:g.262343C>T , LRG_214:g.262343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7502C>T | ENSP00000512431.1:p.Thr2501Ile | |
| ENST00000684826.1:c.2084C>T | ENSP00000509994.1:p.Thr695Ile | |
| ENST00000687027.1:c.1676C>T | ENSP00000508715.1:p.Thr559Ile | |
| ENST00000687863.1:n.4165C>T | ||
| ENST00000689464.1:c.570C>T | ||
| ENST00000691014.1:c.7550C>T | ENSP00000510595.1:p.Thr2517Ile | |
| ENST00000693617.1:c.2084C>T | ENSP00000510031.1:p.Thr695Ile | |
| ENST00000358273.9:c.7520C>T MANE Select | ENSP00000351015.4:p.Thr2507Ile | |
| ENST00000356175.7:c.7457C>T | ENSP00000348498.3:p.Thr2486Ile | |
| ENST00000358273.8:c.7520C>T | ENSP00000351015.4:p.Thr2507Ile | |
| ENST00000456735.6:c.6455C>T | ENSP00000389907.2:p.Thr2152Ile | |
| ENST00000471572.6:c.903C>T | ||
| ENST00000579081.5:c.7656C>T | ENSP00000462408.1:n.7656C>T | |
| ENST00000581790.5:c.600+2001C>T | ||
| NM_000267.3:c.7457C>T , LRG_214t1:c.7457C>T | NP_000258.1:p.Thr2486Ile | |
| NM_001042492.2:c.7520C>T , LRG_214t2:c.7520C>T | NP_001035957.1:p.Thr2507Ile | |
| XM_005257983.1:c.7520C>T | XP_005258040.1:p.Thr2507Ile | |
| XM_005257984.1:c.7457C>T | XP_005258041.1:p.Thr2486Ile | |
| XM_006721922.1:c.7550C>T | XP_006721985.1:p.Thr2517Ile | |
| XM_006721923.2:c.7511C>T | XP_006721986.1:p.Thr2504Ile | |
| XM_006721924.1:c.7550C>T | XP_006721987.1:p.Thr2517Ile | |
| XM_006721925.1:c.7487C>T | XP_006721988.1:p.Thr2496Ile | |
| XM_006721926.2:c.7550C>T | XP_006721989.1:p.Thr2517Ile | |
| XM_006721927.1:c.7550C>T | XP_006721990.1:p.Thr2517Ile | |
| XM_011524852.1:c.7547C>T | XP_011523154.1:p.Thr2516Ile | |
| XM_011524853.1:c.7511C>T | XP_011523155.1:p.Thr2504Ile | |
| XM_011524854.1:c.7511C>T | XP_011523156.1:p.Thr2504Ile | |
| XM_011524855.1:c.7511C>T | XP_011523157.1:p.Thr2504Ile | |
| XM_011524856.1:c.7511C>T | XP_011523158.1:p.Thr2504Ile | |
| XM_011524857.1:c.7550C>T | XP_011523159.1:p.Thr2517Ile | |
| NM_001042492.3:c.7520C>T MANE Select | NP_001035957.1:p.Thr2507Ile |