Linked Data
ClinVar Variation Id:
2193367
ClinVar RCV Id:
RCV002643978
dbSNP Id:
rs533278704
gnomAD v3:
17-12992819-C-T
gnomAD v4:
17-12992819-C-T
COSMIC:
COSM3514397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992819C>T , CM000679.2:g.12992819C>T | GRCh38 |
| NC_000017.10:g.12896136C>T , CM000679.1:g.12896136C>T | GRCh37 |
| NC_000017.9:g.12836861C>T | NCBI36 |
| NG_015808.1:g.30246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2480G>A MANE Select | ENSP00000337445.4:p.Ter827= | |
| ENST00000338034.8:c.2480G>A | ENSP00000337445.4:p.Ter827= | |
| ENST00000395962.6:c.2423G>A | ENSP00000379291.1:p.Ter808= | |
| ENST00000426905.7:c.2360G>A | ENSP00000405223.3:p.Ter787= | |
| ENST00000465825.5:n.2367G>A | ||
| ENST00000480891.5:n.2309G>A | ||
| ENST00000484122.5:n.3310G>A | ||
| ENST00000487229.6:n.2026G>A | ||
| ENST00000584650.5:c.1879G>A | ||
| NM_001165962.1:c.2360G>A | NP_001159434.1:p.Ter787= | |
| NM_018127.6:c.2480G>A | NP_060597.4:p.Ter827= | |
| NM_173717.1:c.2477G>A | NP_776065.1:p.Ter826= | |
| XM_024450850.1:c.2639G>A | XP_024306618.1:p.Ter880= | |
| XM_024450851.1:c.2561G>A | XP_024306619.1:p.Ter854= | |
| XM_024450852.1:c.2558G>A | XP_024306620.1:p.Ter853= | |
| XM_024450853.1:c.2555G>A | XP_024306621.1:p.Ter852= | |
| XM_024450854.1:c.2519G>A | XP_024306622.1:p.Ter840= | |
| XM_024450855.1:c.2438G>A | XP_024306623.1:p.Ter813= | |
| XM_024450856.1:c.2357G>A | XP_024306624.1:p.Ter786= | |
| XM_024450857.1:c.2357G>A | XP_024306625.1:p.Ter786= | |
| XM_024450858.1:c.2276G>A | XP_024306626.1:p.Ter759= | |
| XM_024450859.1:c.2273G>A | XP_024306627.1:p.Ter758= | |
| XM_024450860.1:c.2198G>A | XP_024306628.1:p.Ter733= | |
| XM_024450861.1:c.2198G>A | XP_024306629.1:p.Ter733= | |
| XM_024450862.1:c.2195G>A | XP_024306630.1:p.Ter732= | |
| NM_018127.7:c.2480G>A MANE Select | NP_060597.4:p.Ter827= | |
| NM_001165962.2:c.2360G>A | NP_001159434.1:p.Ter787= | |
| NM_173717.2:c.2477G>A | NP_776065.1:p.Ter826= |