Linked Data
ClinVar Variation Id:
798582
dbSNP Id:
rs758394251
ExAC:
18:28662928 A / G
gnomAD v2:
18-28662928-A-G
gnomAD v4:
18-31082962-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31082962A>G , CM000680.2:g.31082962A>G | GRCh38 |
| NC_000018.9:g.28662928A>G , CM000680.1:g.28662928A>G | GRCh37 |
| NC_000018.8:g.26916926A>G | NCBI36 |
| NG_008208.2:g.24464T>C , LRG_400:g.24464T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.612T>C | ENSP00000507826.1:p.Asp204= | |
| ENST00000251081.8:c.1041T>C | ENSP00000251081.6:p.Asp347= | |
| ENST00000280904.11:c.1041T>C MANE Select | ENSP00000280904.6:p.Asp347= | |
| ENST00000648081.1:c.612T>C | ENSP00000497441.1:p.Asp204= | |
| ENST00000251081.6:c.1041T>C | ENSP00000251081.6:p.Asp347= | |
| ENST00000280904.10:c.1041T>C | ENSP00000280904.6:p.Asp347= | |
| NM_004949.4:c.1041T>C | NP_004940.1:p.Asp347= | |
| NM_024422.4:c.1041T>C | NP_077740.1:p.Asp347= | |
| XM_005258206.3:c.612T>C | XP_005258263.1:p.Asp204= | |
| XM_005258206.4:c.612T>C | XP_005258263.1:p.Asp204= | |
| NM_004949.5:c.1041T>C | NP_004940.1:p.Asp347= | |
| NM_024422.6:c.1041T>C MANE Select | NP_077740.1:p.Asp347= |