Linked Data
ClinVar Variation Id:
2224694
ClinVar RCV Id:
RCV002691877
dbSNP Id:
rs746846864
ExAC:
17:37844120 G / A
gnomAD v2:
17-37844120-G-A
gnomAD v3:
17-39687867-G-A
gnomAD v4:
17-39687867-G-A
COSMIC:
COSM3402826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39687867G>A , CM000679.2:g.39687867G>A | GRCh38 |
| NC_000017.10:g.37844120G>A , CM000679.1:g.37844120G>A | GRCh37 |
| NC_000017.9:g.35097646G>A | NCBI36 |
| NG_007503.1:g.4728G>A , LRG_724:g.4728G>A | |
| NG_034125.1:g.5204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300658.9:c.148C>T MANE Select | ENSP00000300658.4:p.Arg50Cys | |
| ENST00000300658.8:c.148C>T | ENSP00000300658.4:p.Arg50Cys | |
| ENST00000309862.10:n.191C>T | ||
| ENST00000378011.8:c.148C>T | ENSP00000367250.4:p.Arg50Cys | |
| ENST00000429199.6:c.148C>T | ENSP00000415765.2:p.Arg50Cys | |
| ENST00000579146.5:c.148C>T | ENSP00000463234.1:p.Arg50Cys | |
| ENST00000582276.1:n.183C>T | ||
| ENST00000584620.5:c.135C>T | ||
| ENST00000584856.1:c.-35-1848C>T | ENSP00000463785.1:n.-35-1848C>T | |
| ENST00000614824.4:c.148C>T | ENSP00000480165.1:p.Arg50Cys | |
| NM_001291726.1:c.148C>T | NP_001278655.1:p.Arg50Cys | |
| NM_001291728.1:c.148C>T | NP_001278657.1:p.Arg50Cys | |
| NM_001291730.1:c.148C>T | NP_001278659.1:p.Arg50Cys | |
| NM_001291732.1:c.148C>T | NP_001278661.1:p.Arg50Cys | |
| NM_001291733.1:c.148C>T | NP_001278662.1:p.Arg50Cys | |
| NM_033419.4:c.148C>T | NP_219487.3:p.Arg50Cys | |
| XM_011525480.1:c.148C>T | XP_011523782.1:p.Arg50Cys | |
| XM_011525481.1:c.-340C>T | XP_011523783.1:n.-340C>T | |
| XR_934601.1:n.191C>T | ||
| XM_011525480.2:c.148C>T | XP_011523782.1:p.Arg50Cys | |
| XM_011525481.2:c.-340C>T | XP_011523783.1:n.-340C>T | |
| XR_002958086.1:n.191C>T | ||
| NM_033419.5:c.148C>T MANE Select | NP_219487.3:p.Arg50Cys | |
| NM_001291726.2:c.148C>T | NP_001278655.1:p.Arg50Cys | |
| NM_001291728.2:c.148C>T | NP_001278657.1:p.Arg50Cys | |
| NM_001291730.2:c.148C>T | NP_001278659.1:p.Arg50Cys | |
| NM_001291732.2:c.148C>T | NP_001278661.1:p.Arg50Cys | |
| NM_001291733.2:c.148C>T | NP_001278662.1:p.Arg50Cys |