Linked Data
ClinVar Variation Id:
214422
dbSNP Id:
rs863224007
gnomAD v2:
1-241665790-C-T
gnomAD v3:
1-241502490-C-T
gnomAD v4:
1-241502490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241502490C>T , CM000663.2:g.241502490C>T | GRCh38 |
| NC_000001.10:g.241665790C>T , CM000663.1:g.241665790C>T | GRCh37 |
| NC_000001.9:g.239732413C>T | NCBI36 |
| NG_012338.1:g.22265G>A , LRG_504:g.22265G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.1692G>A | ||
| ENST00000682162.1:c.1218G>A | ENSP00000508203.1:n.1218G>A | |
| ENST00000682567.1:n.2737G>A | ||
| ENST00000683521.1:c.1189G>A | ENSP00000506864.1:p.Gly397Arg | |
| ENST00000684161.1:n.2404G>A | ||
| ENST00000684483.1:c.*585G>A | ENSP00000507894.1:n.*585G>A | |
| ENST00000366560.4:c.1189G>A MANE Select | ENSP00000355518.4:p.Gly397Arg | |
| ENST00000366560.3:c.1189G>A | ENSP00000355518.3:p.Gly397Arg | |
| NM_000143.3:c.1189G>A , LRG_504t1:c.1189G>A | NP_000134.2:p.Gly397Arg | |
| XM_011544132.1:c.961G>A | XP_011542434.1:p.Gly321Arg | |
| XM_011544132.2:c.961G>A | XP_011542434.1:p.Gly321Arg | |
| NM_000143.4:c.1189G>A MANE Select | NP_000134.2:p.Gly397Arg |