Linked Data
ClinVar Variation Id:
211907
ClinVar RCV Id:
RCV000192816
dbSNP Id:
rs797045887
gnomAD v4:
17-8890812-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8890812T>C , CM000679.2:g.8890812T>C | GRCh38 |
| NC_000017.10:g.8794129T>C , CM000679.1:g.8794129T>C | GRCh37 |
| NC_000017.9:g.8734854T>C | NCBI36 |
| NG_030374.1:g.79901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447110.6:c.583A>G MANE Select | ENSP00000392812.1:p.Thr195Ala | |
| ENST00000269300.8:c.483-686A>G | ENSP00000269300.3:n.483-686A>G | |
| ENST00000447110.5:c.583A>G | ENSP00000392812.1:p.Thr195Ala | |
| ENST00000578457.5:n.601A>G | ||
| ENST00000578515.5:n.708A>G | ||
| ENST00000580959.5:n.616A>G | ||
| ENST00000581552.5:c.583A>G | ENSP00000462433.1:p.Thr195Ala | |
| ENST00000583812.1:n.166A>G | ||
| ENST00000584456.5:n.301A>G | ||
| ENST00000584803.1:c.583A>G | ENSP00000462680.1:p.Thr195Ala | |
| ENST00000611902.4:c.-422A>G | ENSP00000477795.1:n.-422A>G | |
| ENST00000616147.4:c.-576A>G | ENSP00000484211.1:n.-576A>G | |
| ENST00000623421.3:c.-501-686A>G | ENSP00000485280.1:n.-501-686A>G | |
| NM_001142633.2:c.583A>G | NP_001136105.1:p.Thr195Ala | |
| NM_001251851.1:c.-638A>G | NP_001238780.1:n.-638A>G | |
| NM_001251852.1:c.-576A>G | NP_001238781.1:n.-576A>G | |
| NM_001251853.1:c.-422A>G | NP_001238782.1:n.-422A>G | |
| NM_001251855.1:c.-501-686A>G | NP_001238784.1:n.-501-686A>G | |
| NM_014308.3:c.583A>G | NP_055123.2:p.Thr195Ala | |
| XM_005256579.3:c.583A>G | XP_005256636.1:p.Thr195Ala | |
| XM_005256580.3:c.583A>G | XP_005256637.1:p.Thr195Ala | |
| XM_011523778.1:c.583A>G | XP_011522080.1:p.Thr195Ala | |
| NM_001251851.2:c.-638A>G | NP_001238780.1:n.-638A>G | |
| NM_001142633.3:c.583A>G MANE Select | NP_001136105.1:p.Thr195Ala | |
| NM_001251852.2:c.-576A>G | NP_001238781.1:n.-576A>G | |
| NM_001251853.2:c.-422A>G | NP_001238782.1:n.-422A>G | |
| NM_001251855.2:c.-501-686A>G | NP_001238784.1:n.-501-686A>G | |
| NM_001388396.1:c.583A>G | NP_001375325.1:p.Thr195Ala | |
| NM_001388397.1:c.-576A>G | NP_001375326.1:n.-576A>G | |
| NM_001388398.1:c.-576A>G | NP_001375327.1:n.-576A>G | |
| NM_001388399.1:c.-576A>G | NP_001375328.1:n.-576A>G | |
| NM_001388400.1:c.-422A>G | NP_001375329.1:n.-422A>G | |
| NM_014308.4:c.583A>G | NP_055123.2:p.Thr195Ala |