Linked Data
dbSNP Id:
rs80338889
gnomAD v2:
7-100224453-T-C
gnomAD v3:
7-100626830-T-C
gnomAD v4:
7-100626830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626830T>C , CM000669.2:g.100626830T>C | GRCh38 |
| NC_000007.13:g.100224453T>C , CM000669.1:g.100224453T>C | GRCh37 |
| NC_000007.12:g.100062389T>C | NCBI36 |
| NG_007989.1:g.19721A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2069A>G MANE Select | ENSP00000223051.3:p.Gln690Arg | |
| ENST00000223051.7:c.2069A>G | ENSP00000223051.3:p.Gln690Arg | |
| ENST00000431692.5:c.*744A>G | ENSP00000413905.1:n.*744A>G | |
| ENST00000461176.1:n.415A>G | ||
| ENST00000462090.5:n.1105A>G | ||
| ENST00000462107.1:c.2069A>G | ENSP00000420525.1:p.Gln690Arg | |
| ENST00000465294.5:n.1989A>G | ||
| ENST00000476304.5:n.1690A>G | ||
| ENST00000490084.5:c.1422A>G | ||
| NM_001206855.1:c.1556A>G | NP_001193784.1:p.Gln519Arg | |
| NM_003227.3:c.2069A>G | NP_003218.2:p.Gln690Arg | |
| XM_005250553.3:c.2069A>G | XP_005250610.1:p.Gln690Arg | |
| XM_005250554.3:c.2069A>G | XP_005250611.1:p.Gln690Arg | |
| XR_927814.1:n.433+4276T>C | ||
| NM_001206855.2:c.1556A>G | NP_001193784.1:p.Gln519Arg | |
| XM_005250553.4:c.2069A>G | XP_005250610.1:p.Gln690Arg | |
| XM_017012573.1:c.2069A>G | XP_016868062.1:p.Gln690Arg | |
| NM_003227.4:c.2069A>G MANE Select | NP_003218.2:p.Gln690Arg | |
| NM_001206855.3:c.1556A>G | NP_001193784.1:p.Gln519Arg |