Linked Data
ClinVar Variation Id:
352135
dbSNP Id:
rs560352241
ExAC:
5:149436911 C / T
gnomAD v2:
5-149436911-C-T
gnomAD v3:
5-150057348-C-T
gnomAD v4:
5-150057348-C-T
COSMIC:
COSM29203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150057348C>T , CM000667.2:g.150057348C>T | GRCh38 |
| NC_000005.9:g.149436911C>T , CM000667.1:g.149436911C>T | GRCh37 |
| NC_000005.8:g.149417104C>T | NCBI36 |
| NG_012303.1:g.61025G>A | |
| NG_012303.2:g.61025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.2258G>A MANE Select | ENSP00000501699.1:p.Arg753Gln | |
| ENST00000286301.7:c.2258G>A | ENSP00000286301.3:p.Arg753Gln | |
| ENST00000504875.5:c.*79G>A | ENSP00000422212.1:n.*79G>A | |
| ENST00000515068.1:c.427G>A | ENSP00000427545.1:n.427G>A | |
| NM_001288705.1:c.2258G>A | NP_001275634.1:p.Arg753Gln | |
| NM_005211.3:c.2258G>A | NP_005202.2:p.Arg753Gln | |
| NR_109969.1:n.2308G>A | ||
| NM_001288705.2:c.2258G>A | NP_001275634.1:p.Arg753Gln | |
| NM_001349736.1:c.2258G>A | NP_001336665.1:p.Arg753Gln | |
| NM_001288705.3:c.2258G>A MANE Select | NP_001275634.1:p.Arg753Gln | |
| NM_001375320.1:c.2258G>A | NP_001362249.1:p.Arg753Gln | |
| NM_001375321.1:c.1814G>A | NP_001362250.1:p.Arg605Gln | |
| NR_164679.1:n.2151G>A | ||
| NM_001349736.2:c.2258G>A | NP_001336665.1:p.Arg753Gln | |
| NM_005211.4:c.2258G>A | NP_005202.2:p.Arg753Gln | |
| NR_109969.2:n.2222G>A |