Linked Data
ClinVar Variation Id:
17050
dbSNP Id:
rs121909587
ExAC:
9:123812470 G / A
gnomAD v2:
9-123812470-G-A
gnomAD v3:
9-121050192-G-A
gnomAD v4:
9-121050192-G-A
PubMed:
PMID:7730648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121050192G>A , CM000671.2:g.121050192G>A | GRCh38 |
| NC_000009.11:g.123812470G>A , CM000671.1:g.123812470G>A | GRCh37 |
| NC_000009.10:g.122852291G>A | NCBI36 |
| NG_007364.1:g.5085C>T , LRG_28:g.5085C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696279.1:c.572-3809C>T | ||
| ENST00000696280.1:n.155-3809C>T | ||
| ENST00000696281.1:c.84-3809C>T | ENSP00000512521.1:n.84-3809C>T | |
| ENST00000696284.1:n.947-3809C>T | ||
| ENST00000697922.1:c.*56-3809C>T | ENSP00000513478.1:n.*56-3809C>T | |
| ENST00000697923.1:n.754-3809C>T | ||
| ENST00000223642.3:c.55C>T MANE Select | ENSP00000223642.1:p.Gln19Ter | |
| ENST00000223642.2:c.55C>T | ENSP00000223642.1:p.Gln19Ter | |
| NM_001735.2:c.55C>T , LRG_28t1:c.55C>T | NP_001726.2:p.Gln19Ter | |
| XM_011518980.1:c.81-3809C>T | XP_011517282.1:n.81-3809C>T | |
| XM_011518981.1:c.84-3809C>T | XP_011517283.1:n.84-3809C>T | |
| NM_001317163.1:c.84-3809C>T | NP_001304092.1:n.84-3809C>T | |
| NM_001317164.1:c.55C>T | NP_001304093.1:p.Gln19Ter | |
| NM_001317163.2:c.84-3809C>T | NP_001304092.1:n.84-3809C>T | |
| NM_001317164.2:c.55C>T | NP_001304093.1:p.Gln19Ter | |
| NM_001735.3:c.55C>T MANE Select | NP_001726.2:p.Gln19Ter |