Linked Data
ClinVar Variation Id:
2332981
ClinVar RCV Id:
RCV004179236
dbSNP Id:
rs752951478
ExAC:
11:116706820 C / T
gnomAD v2:
11-116706820-C-T
gnomAD v4:
11-116836104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836104C>T , CM000673.2:g.116836104C>T | GRCh38 |
| NC_000011.9:g.116706820C>T , CM000673.1:g.116706820C>T | GRCh37 |
| NC_000011.8:g.116212030C>T | NCBI36 |
| NG_012021.1:g.6519G>A , LRG_767:g.6519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.508G>A MANE Select | ENSP00000236850.3:p.Glu170Lys | |
| ENST00000236850.4:c.508G>A | ENSP00000236850.3:p.Glu170Lys | |
| ENST00000359492.6:c.508G>A | ENSP00000352471.2:p.Glu170Lys | |
| ENST00000375320.5:c.508G>A | ENSP00000364469.1:p.Glu170Lys | |
| ENST00000375323.5:c.508G>A | ENSP00000364472.1:p.Glu170Lys | |
| ENST00000375329.6:c.442G>A | ENSP00000364478.2:p.Glu148Lys | |
| NM_000039.1:c.508G>A , LRG_767t1:c.508G>A | NP_000030.1:p.Glu170Lys | |
| XM_005271539.2:c.508G>A | XP_005271596.1:p.Glu170Lys | |
| XM_005271540.1:c.508G>A | XP_005271597.1:p.Glu170Lys | |
| NM_000039.2:c.508G>A | NP_000030.1:p.Glu170Lys | |
| NM_001318017.1:c.508G>A | NP_001304946.1:p.Glu170Lys | |
| NM_001318018.1:c.508G>A | NP_001304947.1:p.Glu170Lys | |
| NM_001318021.1:c.181G>A | NP_001304950.1:p.Glu61Lys | |
| NM_001318017.2:c.508G>A | NP_001304946.1:p.Glu170Lys | |
| NM_001318018.2:c.508G>A | NP_001304947.1:p.Glu170Lys | |
| NM_000039.3:c.508G>A MANE Select | NP_000030.1:p.Glu170Lys |