Linked Data
ClinVar Variation Id:
2909794
ClinVar RCV Id:
RCV003622188
dbSNP Id:
rs200112920
ExAC:
19:17941342 G / C
gnomAD v2:
19-17941342-G-C
gnomAD v3:
19-17830533-G-C
gnomAD v4:
19-17830533-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830533G>C , CM000681.2:g.17830533G>C | GRCh38 |
| NC_000019.9:g.17941342G>C , CM000681.1:g.17941342G>C | GRCh37 |
| NC_000019.8:g.17802342G>C | NCBI36 |
| NG_007273.1:g.22459C>G , LRG_77:g.22459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1623C>G | ENSP00000513006.1:n.*1623C>G | |
| ENST00000696967.1:n.2243C>G | ||
| ENST00000696968.1:n.299C>G | ||
| ENST00000696969.1:n.2023C>G | ||
| ENST00000458235.7:c.3066C>G MANE Select | ENSP00000391676.1:p.Thr1022= | |
| ENST00000458235.5:c.3066C>G | ENSP00000391676.1:p.Thr1022= | |
| ENST00000527031.5:n.2279-5223C>G | ||
| ENST00000527670.5:c.3066C>G | ENSP00000432511.1:p.Thr1022= | |
| ENST00000534444.1:c.3066C>G | ENSP00000436421.1:p.Thr1022= | |
| NM_000215.3:c.3066C>G , LRG_77t1:c.3066C>G | NP_000206.2:p.Thr1022= | |
| XM_005259896.2:c.3195C>G | XP_005259953.1:p.Thr1065= | |
| XM_006722745.2:c.3066C>G | XP_006722808.1:p.Thr1022= | |
| XM_005259896.3:c.3195C>G | XP_005259953.1:p.Thr1065= | |
| NM_000215.4:c.3066C>G MANE Select | NP_000206.2:p.Thr1022= |