Linked Data
ClinVar Variation Id:
936101
ClinVar RCV Id:
RCV001204833
dbSNP Id:
rs1483668148
gnomAD v3:
2-97724169-G-C
gnomAD v4:
2-97724169-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97724169G>C , CM000664.2:g.97724169G>C | GRCh38 |
| NC_000002.11:g.98340632G>C , CM000664.1:g.98340632G>C | GRCh37 |
| NC_000002.10:g.97707064G>C | NCBI36 |
| NG_007727.1:g.15602G>C , LRG_126:g.15602G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.133G>C | ENSP00000513759.1:p.Gly45Arg | |
| ENST00000698509.1:n.273G>C | ||
| ENST00000264972.10:c.133G>C MANE Select | ENSP00000264972.5:p.Gly45Arg | |
| ENST00000264972.9:c.133G>C | ENSP00000264972.5:p.Gly45Arg | |
| ENST00000483781.5:n.326G>C | ||
| NM_001079.3:c.133G>C , LRG_126t1:c.133G>C | NP_001070.2:p.Gly45Arg | |
| XM_005264015.3:c.133G>C | XP_005264072.1:p.Gly45Arg | |
| XM_006712728.2:c.133G>C | XP_006712791.1:p.Gly45Arg | |
| XM_011511783.1:c.133G>C | XP_011510085.1:p.Gly45Arg | |
| XR_923018.1:n.335G>C | ||
| XR_923019.1:n.335G>C | ||
| XR_923020.1:n.335G>C | ||
| XM_017004867.1:c.502G>C | XP_016860356.1:p.Gly168Arg | |
| XM_017004868.1:c.502G>C | XP_016860357.1:p.Gly168Arg | |
| XM_017004869.1:c.502G>C | XP_016860358.1:p.Gly168Arg | |
| XM_017004870.1:c.502G>C | XP_016860359.1:p.Gly168Arg | |
| XR_001738925.1:n.1741G>C | ||
| XR_001738926.1:n.1741G>C | ||
| XR_001738927.1:n.1741G>C | ||
| NM_001079.4:c.133G>C MANE Select | NP_001070.2:p.Gly45Arg | |
| NM_001378594.1:c.133G>C | NP_001365523.1:p.Gly45Arg |