Linked Data
ClinVar Variation Id:
2342154
ClinVar RCV Id:
RCV004181186
dbSNP Id:
rs758758860
ExAC:
2:191301084 G / A
gnomAD v2:
2-191301084-G-A
gnomAD v4:
2-190436358-G-A
COSMIC:
COSM1014109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190436358G>A , CM000664.2:g.190436358G>A | GRCh38 |
| NC_000002.11:g.191301084G>A , CM000664.1:g.191301084G>A | GRCh37 |
| NC_000002.10:g.191009329G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392328.6:c.329G>A MANE Select | ENSP00000376141.1:p.Arg110His | |
| ENST00000281416.11:c.329G>A | ENSP00000281416.7:p.Arg110His | |
| ENST00000392328.5:c.329G>A | ENSP00000376141.1:p.Arg110His | |
| ENST00000432036.5:c.329G>A | ENSP00000400131.1:p.Arg110His | |
| ENST00000445546.1:c.329G>A | ENSP00000403762.1:p.Arg110His | |
| NM_017694.3:c.329G>A | NP_060164.3:p.Arg110His | |
| XM_005246654.2:c.329G>A | XP_005246711.1:p.Arg110His | |
| XM_005246656.2:c.329G>A | XP_005246713.1:p.Arg110His | |
| XM_011511368.1:c.329G>A | XP_011509670.1:p.Arg110His | |
| XM_005246656.3:c.329G>A | XP_005246713.1:p.Arg110His | |
| XM_017004392.1:c.329G>A | XP_016859881.1:p.Arg110His | |
| XR_002959308.1:n.531G>A | ||
| NM_017694.4:c.329G>A MANE Select | NP_060164.3:p.Arg110His | |
| NM_001375986.1:c.329G>A | NP_001362915.1:p.Arg110His | |
| NM_001375987.1:c.329G>A | NP_001362916.1:p.Arg110His | |
| NM_001375988.1:c.329G>A | NP_001362917.1:p.Arg110His | |
| NM_001375989.1:c.329G>A | NP_001362918.1:p.Arg110His | |
| NM_001375990.1:c.329G>A | NP_001362919.1:p.Arg110His | |
| NM_001375992.1:c.329G>A | NP_001362921.1:p.Arg110His |