Linked Data
ClinVar Variation Id:
14181
ClinVar RCV Id:
RCV000015244
RCV000015245
RCV000192248
RCV000517355
RCV000638155
RCV000763262
RCV001262744
RCV002245981
RCV002345245
dbSNP Id:
rs121913595
gnomAD v4:
1-161306785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306785G>A , CM000663.2:g.161306785G>A | GRCh38 |
| NC_000001.10:g.161276575G>A , CM000663.1:g.161276575G>A | GRCh37 |
| NC_000001.9:g.159543199G>A | NCBI36 |
| NG_008055.1:g.8188C>T , LRG_256:g.8188C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.367+4C>T | ENSP00000488104.2:n.367+4C>T | |
| ENST00000533357.5:c.371C>T MANE Select | ENSP00000432943.1:p.Thr124Met | |
| ENST00000672287.2:c.-218C>T | ENSP00000499818.2:n.-218C>T | |
| ENST00000672602.2:c.371C>T | ENSP00000500814.2:p.Thr124Met | |
| ENST00000674861.1:n.434C>T | ||
| ENST00000463290.5:c.371C>T | ENSP00000431538.1:p.Thr124Met | |
| ENST00000491222.5:c.-218C>T | ENSP00000431441.1:n.-218C>T | |
| ENST00000526189.2:c.111+4C>T | ||
| ENST00000533357.4:c.371C>T | ENSP00000432943.1:p.Thr124Met | |
| NM_000530.6:c.371C>T , LRG_256t1:c.371C>T | NP_000521.2:p.Thr124Met | |
| NM_000530.7:c.371C>T | NP_000521.2:p.Thr124Met | |
| NM_001315491.1:c.371C>T | NP_001302420.1:p.Thr124Met | |
| XM_017001321.2:c.401C>T | XP_016856810.1:p.Thr134Met | |
| NM_000530.8:c.371C>T MANE Select | NP_000521.2:p.Thr124Met | |
| NM_001315491.2:c.371C>T | NP_001302420.1:p.Thr124Met |