Linked Data
ClinVar Variation Id:
1360775
ClinVar RCV Id:
RCV001907182
dbSNP Id:
rs1470895228
gnomAD v2:
17-12896292-A-T
gnomAD v4:
17-12992975-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992975A>T , CM000679.2:g.12992975A>T | GRCh38 |
| NC_000017.10:g.12896292A>T , CM000679.1:g.12896292A>T | GRCh37 |
| NC_000017.9:g.12837017A>T | NCBI36 |
| NG_015808.1:g.30090T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2324T>A MANE Select | ENSP00000337445.4:p.Ile775Asn | |
| ENST00000338034.8:c.2324T>A | ENSP00000337445.4:p.Ile775Asn | |
| ENST00000395962.6:c.2267T>A | ENSP00000379291.1:p.Ile756Asn | |
| ENST00000426905.7:c.2204T>A | ENSP00000405223.3:p.Ile735Asn | |
| ENST00000465825.5:n.2211T>A | ||
| ENST00000480891.5:n.2153T>A | ||
| ENST00000484122.5:n.3154T>A | ||
| ENST00000487229.6:n.1870T>A | ||
| ENST00000584650.5:c.1723T>A | ||
| NM_001165962.1:c.2204T>A | NP_001159434.1:p.Ile735Asn | |
| NM_018127.6:c.2324T>A | NP_060597.4:p.Ile775Asn | |
| NM_173717.1:c.2321T>A | NP_776065.1:p.Ile774Asn | |
| XM_024450850.1:c.2483T>A | XP_024306618.1:p.Ile828Asn | |
| XM_024450851.1:c.2405T>A | XP_024306619.1:p.Ile802Asn | |
| XM_024450852.1:c.2402T>A | XP_024306620.1:p.Ile801Asn | |
| XM_024450853.1:c.2399T>A | XP_024306621.1:p.Ile800Asn | |
| XM_024450854.1:c.2363T>A | XP_024306622.1:p.Ile788Asn | |
| XM_024450855.1:c.2282T>A | XP_024306623.1:p.Ile761Asn | |
| XM_024450856.1:c.2201T>A | XP_024306624.1:p.Ile734Asn | |
| XM_024450857.1:c.2201T>A | XP_024306625.1:p.Ile734Asn | |
| XM_024450858.1:c.2120T>A | XP_024306626.1:p.Ile707Asn | |
| XM_024450859.1:c.2117T>A | XP_024306627.1:p.Ile706Asn | |
| XM_024450860.1:c.2042T>A | XP_024306628.1:p.Ile681Asn | |
| XM_024450861.1:c.2042T>A | XP_024306629.1:p.Ile681Asn | |
| XM_024450862.1:c.2039T>A | XP_024306630.1:p.Ile680Asn | |
| NM_018127.7:c.2324T>A MANE Select | NP_060597.4:p.Ile775Asn | |
| NM_001165962.2:c.2204T>A | NP_001159434.1:p.Ile735Asn | |
| NM_173717.2:c.2321T>A | NP_776065.1:p.Ile774Asn |