Linked Data
ClinVar Variation Id:
1973994
ClinVar RCV Id:
RCV002765437
dbSNP Id:
rs1650328751
gnomAD v4:
1-36466588-T-C
MyVariant Identifiers:
chr1:g.36932189T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36466588T>C , CM000663.2:g.36466588T>C | GRCh38 |
| NC_000001.10:g.36932189T>C , CM000663.1:g.36932189T>C | GRCh37 |
| NC_000001.9:g.36704776T>C | NCBI36 |
| NG_016270.1:g.21321A>G , LRG_144:g.21321A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.2178A>G | ENSP00000435218.2:p.Thr726= | |
| ENST00000487540.7:c.*574A>G | ENSP00000514169.2:n.*574A>G | |
| ENST00000699089.1:n.3260A>G | ||
| ENST00000699090.1:c.1884A>G | ENSP00000514168.1:p.Thr628= | |
| ENST00000373106.6:c.2280A>G MANE Select | ENSP00000362198.2:p.Thr760= | |
| ENST00000331941.6:c.2247+33A>G | ENSP00000332180.5:n.2247+33A>G | |
| ENST00000361632.8:c.2280A>G | ENSP00000355406.4:p.Thr760= | |
| ENST00000373103.5:c.2361A>G | ENSP00000362195.1:p.Thr787= | |
| ENST00000373104.5:c.2247+33A>G | ENSP00000362196.1:n.2247+33A>G | |
| ENST00000373106.5:c.2280A>G | ENSP00000362198.1:p.Thr760= | |
| ENST00000464465.6:c.935A>G | ||
| ENST00000480825.6:n.5530A>G | ||
| ENST00000484762.1:n.671A>G | ||
| ENST00000487540.6:n.1461A>G | ||
| NM_000760.3:c.2280A>G | NP_000751.1:p.Thr760= | |
| NM_156039.3:c.2361A>G , LRG_144t1:c.2361A>G | NP_724781.1:p.Thr787= | |
| NM_172313.2:c.2247+33A>G | NP_758519.1:n.2247+33A>G | |
| XM_005270493.1:c.2277A>G | XP_005270550.1:p.Thr759= | |
| XM_011540748.1:c.2361A>G | XP_011539050.1:p.Thr787= | |
| XM_011540749.1:c.2358A>G | XP_011539051.1:p.Thr786= | |
| XM_011540750.1:c.1689A>G | XP_011539052.1:p.Thr563= | |
| XM_011540748.3:c.2361A>G | XP_011539050.1:p.Thr787= | |
| XM_017000370.1:c.2361A>G | XP_016855859.1:p.Thr787= | |
| NM_000760.4:c.2280A>G MANE Select | NP_000751.1:p.Thr760= | |
| NM_172313.3:c.2247+33A>G | NP_758519.1:n.2247+33A>G |