Linked Data
ClinVar Variation Id:
984354
ClinVar RCV Id:
RCV001264364
dbSNP Id:
rs1341484544
gnomAD v2:
9-37428533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428536C>T , CM000671.2:g.37428536C>T | GRCh38 |
| NC_000009.11:g.37428533C>T , CM000671.1:g.37428533C>T | GRCh37 |
| NC_000009.10:g.37418533C>T | NCBI36 |
| NG_008135.1:g.10827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.457C>T MANE Select | ENSP00000313432.6:p.Gln153Ter | |
| ENST00000318158.10:c.457C>T | ENSP00000313432.6:p.Gln153Ter | |
| ENST00000377824.8:n.494C>T | ||
| ENST00000460882.5:n.484C>T | ||
| ENST00000491488.5:n.162C>T | ||
| ENST00000493368.5:n.514C>T | ||
| ENST00000497693.1:n.831C>T | ||
| ENST00000607784.1:c.457C>T | ENSP00000475569.1:p.Gln153Ter | |
| NM_012203.1:c.457C>T | NP_036335.1:p.Gln153Ter | |
| XM_005251631.1:c.136C>T | XP_005251688.1:p.Gln46Ter | |
| XM_011518073.1:c.-306C>T | XP_011516375.1:n.-306C>T | |
| XR_929374.1:n.542C>T | ||
| XM_017015320.2:c.457C>T | XP_016870809.1:p.Gln153Ter | |
| XM_017015321.2:c.457C>T | XP_016870810.1:p.Gln153Ter | |
| XM_017015323.2:c.-306C>T | XP_016870812.1:n.-306C>T | |
| XM_024447716.1:c.730C>T | XP_024303484.1:p.Gln244Ter | |
| XM_024447717.1:c.730C>T | XP_024303485.1:p.Gln244Ter | |
| XR_002956828.1:n.745C>T | ||
| XR_002956829.1:n.745C>T | ||
| XR_002956830.1:n.516C>T | ||
| XR_002956831.1:n.191C>T | ||
| XR_002956832.1:n.516C>T | ||
| NM_012203.2:c.457C>T MANE Select | NP_036335.1:p.Gln153Ter |