Linked Data
ClinVar Variation Id:
2179177
ClinVar RCV Id:
RCV002615055
dbSNP Id:
rs1321372185
gnomAD v2:
18-77440181-G-T
gnomAD v3:
18-79680181-G-T
gnomAD v4:
18-79680181-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.79680181G>T , CM000680.2:g.79680181G>T | GRCh38 |
| NC_000018.9:g.77440181G>T , CM000680.1:g.77440181G>T | GRCh37 |
| NC_000018.8:g.75541169G>T | NCBI36 |
| NG_007988.1:g.5381G>T , LRG_236:g.5381G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613122.5:c.234G>T MANE Select | ENSP00000484525.2:p.Arg78= | |
| ENST00000075430.11:c.234G>T | ENSP00000075430.7:p.Arg78= | |
| ENST00000591598.5:c.30G>T | ENSP00000465119.1:p.Arg10= | |
| ENST00000613122.4:c.234G>T | ENSP00000484525.1:p.Arg78= | |
| NM_004715.4:c.234G>T , LRG_236t1:c.234G>T | NP_004706.3:p.Arg78= | |
| NM_048368.3:c.234G>T | NP_430255.2:p.Arg78= | |
| XM_005266782.2:c.234G>T | XP_005266839.1:p.Arg78= | |
| XM_011526261.1:c.234G>T | XP_011524563.1:p.Arg78= | |
| NM_001318511.1:c.234G>T | NP_001305440.1:p.Arg78= | |
| NM_001318511.2:c.234G>T | NP_001305440.1:p.Arg78= | |
| NM_004715.5:c.234G>T MANE Select | NP_004706.3:p.Arg78= | |
| NM_048368.4:c.234G>T | NP_430255.2:p.Arg78= |