Linked Data
ClinVar Variation Id:
5384
ClinVar RCV Id:
RCV000005715
dbSNP Id:
rs80338889
gnomAD v4:
7-100626830-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626830T>G , CM000669.2:g.100626830T>G | GRCh38 |
| NC_000007.13:g.100224453T>G , CM000669.1:g.100224453T>G | GRCh37 |
| NC_000007.12:g.100062389T>G | NCBI36 |
| NG_007989.1:g.19721A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2069A>C MANE Select | ENSP00000223051.3:p.Gln690Pro | |
| ENST00000223051.7:c.2069A>C | ENSP00000223051.3:p.Gln690Pro | |
| ENST00000431692.5:c.*744A>C | ENSP00000413905.1:n.*744A>C | |
| ENST00000461176.1:n.415A>C | ||
| ENST00000462090.5:n.1105A>C | ||
| ENST00000462107.1:c.2069A>C | ENSP00000420525.1:p.Gln690Pro | |
| ENST00000465294.5:n.1989A>C | ||
| ENST00000476304.5:n.1690A>C | ||
| ENST00000490084.5:c.1422A>C | ||
| NM_001206855.1:c.1556A>C | NP_001193784.1:p.Gln519Pro | |
| NM_003227.3:c.2069A>C | NP_003218.2:p.Gln690Pro | |
| XM_005250553.3:c.2069A>C | XP_005250610.1:p.Gln690Pro | |
| XM_005250554.3:c.2069A>C | XP_005250611.1:p.Gln690Pro | |
| XR_927814.1:n.433+4276T>G | ||
| NM_001206855.2:c.1556A>C | NP_001193784.1:p.Gln519Pro | |
| XM_005250553.4:c.2069A>C | XP_005250610.1:p.Gln690Pro | |
| XM_017012573.1:c.2069A>C | XP_016868062.1:p.Gln690Pro | |
| NM_003227.4:c.2069A>C MANE Select | NP_003218.2:p.Gln690Pro | |
| NM_001206855.3:c.1556A>C | NP_001193784.1:p.Gln519Pro |