Linked Data
ClinVar Variation Id:
130041
dbSNP Id:
rs2292597
ExAC:
4:119237348 T / C
gnomAD v2:
4-119237348-T-C
gnomAD v3:
4-118316193-T-C
gnomAD v4:
4-118316193-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118316193T>C , CM000666.2:g.118316193T>C | GRCh38 |
| NC_000004.11:g.119237348T>C , CM000666.1:g.119237348T>C | GRCh37 |
| NC_000004.10:g.119456796T>C | NCBI36 |
| NG_023350.1:g.41575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296498.3:c.1281A>G MANE Select | ENSP00000296498.3:p.Gln427= | |
| ENST00000503043.1:n.309A>G | ||
| NM_003619.3:c.1281A>G | NP_003610.2:p.Gln427= | |
| XM_005263318.3:c.1281A>G | XP_005263375.1:p.Gln427= | |
| XM_011532387.1:c.1281A>G | XP_011530689.1:p.Gln427= | |
| XM_005263318.4:c.1281A>G | XP_005263375.1:p.Gln427= | |
| XM_011532387.2:c.1281A>G | XP_011530689.1:p.Gln427= | |
| NM_003619.4:c.1281A>G MANE Select | NP_003610.2:p.Gln427= |