Linked Data
ClinVar Variation Id:
263501
ClinVar RCV Id:
RCV002494783
dbSNP Id:
rs769713919
ExAC:
18:29099892 A / G
gnomAD v2:
18-29099892-A-G
gnomAD v3:
18-31519929-A-G
gnomAD v4:
18-31519929-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31519929A>G , CM000680.2:g.31519929A>G | GRCh38 |
| NC_000018.9:g.29099892A>G , CM000680.1:g.29099892A>G | GRCh37 |
| NC_000018.8:g.27353890A>G | NCBI36 |
| NG_007072.3:g.26688A>G , LRG_397:g.26688A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.39A>G | ||
| ENST00000682241.2:c.208A>G | ENSP00000507600.2:p.Ile70Val | |
| ENST00000683614.2:n.39A>G | ||
| ENST00000682087.1:c.39A>G | ||
| ENST00000682241.1:c.39A>G | ||
| ENST00000683614.1:c.39A>G | ||
| ENST00000683654.1:c.208A>G | ENSP00000506971.1:p.Ile70Val | |
| ENST00000684461.1:n.39A>G | ||
| ENST00000261590.13:c.208A>G MANE Select | ENSP00000261590.8:p.Ile70Val | |
| ENST00000261590.12:c.208A>G | ENSP00000261590.8:p.Ile70Val | |
| ENST00000585206.1:c.208A>G | ENSP00000462503.1:p.Ile70Val | |
| NM_001943.3:c.208A>G , LRG_397t1:c.208A>G | NP_001934.2:p.Ile70Val | |
| NM_001943.4:c.208A>G | NP_001934.2:p.Ile70Val | |
| XM_024451095.1:c.-327A>G | XP_024306863.1:n.-327A>G | |
| NM_001943.5:c.208A>G MANE Select | NP_001934.2:p.Ile70Val |