Linked Data
ClinVar Variation Id:
1034423
ClinVar RCV Id:
RCV001337143
dbSNP Id:
rs922658791
gnomAD v2:
17-12896367-A-C
gnomAD v3:
17-12993050-A-C
gnomAD v4:
17-12993050-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12993050A>C , CM000679.2:g.12993050A>C | GRCh38 |
| NC_000017.10:g.12896367A>C , CM000679.1:g.12896367A>C | GRCh37 |
| NC_000017.9:g.12837092A>C | NCBI36 |
| NG_015808.1:g.30015T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2254-5T>G MANE Select | ENSP00000337445.4:n.2254-5T>G | |
| ENST00000338034.8:c.2254-5T>G | ENSP00000337445.4:n.2254-5T>G | |
| ENST00000395962.6:c.2197-5T>G | ENSP00000379291.1:n.2197-5T>G | |
| ENST00000426905.7:c.2134-5T>G | ENSP00000405223.3:n.2134-5T>G | |
| ENST00000465825.5:n.2141-5T>G | ||
| ENST00000480891.5:n.2083-5T>G | ||
| ENST00000484122.5:n.3084-5T>G | ||
| ENST00000487229.6:n.1800-5T>G | ||
| ENST00000584650.5:c.1653-5T>G | ||
| NM_001165962.1:c.2134-5T>G | NP_001159434.1:n.2134-5T>G | |
| NM_018127.6:c.2254-5T>G | NP_060597.4:n.2254-5T>G | |
| NM_173717.1:c.2251-5T>G | NP_776065.1:n.2251-5T>G | |
| XM_024450850.1:c.2413-5T>G | XP_024306618.1:n.2413-5T>G | |
| XM_024450851.1:c.2335-5T>G | XP_024306619.1:n.2335-5T>G | |
| XM_024450852.1:c.2332-5T>G | XP_024306620.1:n.2332-5T>G | |
| XM_024450853.1:c.2329-5T>G | XP_024306621.1:n.2329-5T>G | |
| XM_024450854.1:c.2293-5T>G | XP_024306622.1:n.2293-5T>G | |
| XM_024450855.1:c.2212-5T>G | XP_024306623.1:n.2212-5T>G | |
| XM_024450856.1:c.2131-5T>G | XP_024306624.1:n.2131-5T>G | |
| XM_024450857.1:c.2131-5T>G | XP_024306625.1:n.2131-5T>G | |
| XM_024450858.1:c.2050-5T>G | XP_024306626.1:n.2050-5T>G | |
| XM_024450859.1:c.2047-5T>G | XP_024306627.1:n.2047-5T>G | |
| XM_024450860.1:c.1972-5T>G | XP_024306628.1:n.1972-5T>G | |
| XM_024450861.1:c.1972-5T>G | XP_024306629.1:n.1972-5T>G | |
| XM_024450862.1:c.1969-5T>G | XP_024306630.1:n.1969-5T>G | |
| NM_018127.7:c.2254-5T>G MANE Select | NP_060597.4:n.2254-5T>G | |
| NM_001165962.2:c.2134-5T>G | NP_001159434.1:n.2134-5T>G | |
| NM_173717.2:c.2251-5T>G | NP_776065.1:n.2251-5T>G |