Linked Data
ClinVar Variation Id:
2352077
ClinVar RCV Id:
RCV004192307
dbSNP Id:
rs140493291
ExAC:
9:99581407 T / C
gnomAD v2:
9-99581407-T-C
gnomAD v3:
9-96819125-T-C
gnomAD v4:
9-96819125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96819125T>C , CM000671.2:g.96819125T>C | GRCh38 |
| NC_000009.11:g.99581407T>C , CM000671.1:g.99581407T>C | GRCh37 |
| NC_000009.10:g.98621228T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481138.6:c.898A>G MANE Select | ENSP00000419397.1:p.Ile300Val | |
| ENST00000289032.12:c.863A>G | ||
| ENST00000481138.5:c.898A>G | ENSP00000419397.1:p.Ile300Val | |
| ENST00000535338.5:c.898A>G | ENSP00000440624.2:p.Ile300Val | |
| NM_001001662.1:c.898A>G | NP_001001662.1:p.Ile300Val | |
| XM_005251742.3:c.898A>G | XP_005251799.1:p.Ile300Val | |
| XM_005251744.2:c.826A>G | XP_005251801.1:p.Ile276Val | |
| XM_011518313.1:c.916A>G | XP_011516615.1:p.Ile306Val | |
| XM_011518314.1:c.898A>G | XP_011516616.1:p.Ile300Val | |
| XM_011518315.1:c.898A>G | XP_011516617.1:p.Ile300Val | |
| XM_011518316.1:c.898A>G | XP_011516618.1:p.Ile300Val | |
| XM_011518317.1:c.898A>G | XP_011516619.1:p.Ile300Val | |
| XM_011518318.1:c.898A>G | XP_011516620.1:p.Ile300Val | |
| XM_011518319.1:c.880A>G | XP_011516621.1:p.Ile294Val | |
| XM_011518320.1:c.880A>G | XP_011516622.1:p.Ile294Val | |
| XM_011518321.1:c.502A>G | XP_011516623.1:p.Ile168Val | |
| XM_011518322.1:c.502A>G | XP_011516624.1:p.Ile168Val | |
| NM_001001662.2:c.898A>G | NP_001001662.1:p.Ile300Val | |
| NM_001346991.1:c.898A>G | NP_001333920.1:p.Ile300Val | |
| NM_001346993.1:c.826A>G | NP_001333922.1:p.Ile276Val | |
| NM_001346995.1:c.502A>G | NP_001333924.1:p.Ile168Val | |
| XM_011518315.2:c.898A>G | XP_011516617.1:p.Ile300Val | |
| XM_011518318.3:c.898A>G | XP_011516620.1:p.Ile300Val | |
| XM_011518320.2:c.880A>G | XP_011516622.1:p.Ile294Val | |
| XM_017014343.2:c.880A>G | XP_016869832.1:p.Ile294Val | |
| XM_024447430.1:c.502A>G | XP_024303198.1:p.Ile168Val | |
| XM_024447431.1:c.502A>G | XP_024303199.1:p.Ile168Val | |
| XR_001746208.2:n.1127A>G | ||
| NM_001001662.3:c.898A>G MANE Select | NP_001001662.1:p.Ile300Val | |
| NM_001346991.2:c.898A>G | NP_001333920.1:p.Ile300Val | |
| NM_001346993.2:c.826A>G | NP_001333922.1:p.Ile276Val | |
| NM_001346995.2:c.502A>G | NP_001333924.1:p.Ile168Val |