Linked Data
ClinVar Variation Id:
808377
dbSNP Id:
rs1598580423
gnomAD v3:
18-31079847-C-T
gnomAD v4:
18-31079847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31079847C>T , CM000680.2:g.31079847C>T | GRCh38 |
| NC_000018.9:g.28659813C>T , CM000680.1:g.28659813C>T | GRCh37 |
| NC_000018.8:g.26913811C>T | NCBI36 |
| NG_008208.2:g.27579G>A , LRG_400:g.27579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1234G>A | ENSP00000507826.1:p.Gly412Arg | |
| ENST00000251081.8:c.1663G>A | ENSP00000251081.6:p.Gly555Arg | |
| ENST00000280904.11:c.1663G>A MANE Select | ENSP00000280904.6:p.Gly555Arg | |
| ENST00000648081.1:c.1234G>A | ENSP00000497441.1:p.Gly412Arg | |
| ENST00000251081.6:c.1663G>A | ENSP00000251081.6:p.Gly555Arg | |
| ENST00000280904.10:c.1663G>A | ENSP00000280904.6:p.Gly555Arg | |
| NM_004949.4:c.1663G>A | NP_004940.1:p.Gly555Arg | |
| NM_024422.4:c.1663G>A | NP_077740.1:p.Gly555Arg | |
| XM_005258206.3:c.1234G>A | XP_005258263.1:p.Gly412Arg | |
| XM_005258206.4:c.1234G>A | XP_005258263.1:p.Gly412Arg | |
| NM_004949.5:c.1663G>A | NP_004940.1:p.Gly555Arg | |
| NM_024422.6:c.1663G>A MANE Select | NP_077740.1:p.Gly555Arg |