Linked Data
ClinVar Variation Id:
5044
dbSNP Id:
rs121918549
ExAC:
12:53715207 G / T
gnomAD v2:
12-53715207-G-T
gnomAD v3:
12-53321423-G-T
gnomAD v4:
12-53321423-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53321423G>T , CM000674.2:g.53321423G>T | GRCh38 |
| NC_000012.11:g.53715207G>T , CM000674.1:g.53715207G>T | GRCh37 |
| NC_000012.10:g.52001474G>T | NCBI36 |
| NG_016775.1:g.5206C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.43C>A MANE Select | ENSP00000209873.4:p.Gln15Lys | |
| ENST00000546393.7:n.141C>A | ||
| ENST00000546562.6:n.140+48C>A | ||
| ENST00000548880.2:n.193C>A | ||
| ENST00000209873.8:c.43C>A | ENSP00000209873.4:p.Gln15Lys | |
| ENST00000394384.7:c.43C>A | ENSP00000377908.3:p.Gln15Lys | |
| ENST00000546562.5:n.140+48C>A | ||
| ENST00000547757.1:c.43C>A | ENSP00000448020.1:p.Gln15Lys | |
| ENST00000547761.6:n.107+454C>A | ||
| ENST00000548258.5:n.152-731C>A | ||
| ENST00000548880.1:n.138C>A | ||
| ENST00000549821.5:n.121+454C>A | ||
| ENST00000549983.5:n.146+48C>A | ||
| ENST00000550286.5:c.-157-731C>A | ENSP00000446885.1:n.-157-731C>A | |
| ENST00000551724.5:n.174-731C>A | ||
| ENST00000552161.5:n.138C>A | ||
| NM_001173466.1:c.43C>A | NP_001166937.1:p.Gln15Lys | |
| NM_015665.5:c.43C>A | NP_056480.1:p.Gln15Lys | |
| XM_011538778.1:c.43C>A | XP_011537080.1:p.Gln15Lys | |
| XM_011538780.1:c.43C>A | XP_011537082.1:p.Gln15Lys | |
| XM_011538778.2:c.43C>A | XP_011537080.1:p.Gln15Lys | |
| XM_011538780.2:c.43C>A | XP_011537082.1:p.Gln15Lys | |
| XR_001748875.2:n.163C>A | ||
| NM_015665.6:c.43C>A MANE Select | NP_056480.1:p.Gln15Lys | |
| NM_001173466.2:c.43C>A | NP_001166937.1:p.Gln15Lys |