Linked Data
ClinVar Variation Id:
1208787
ClinVar RCV Id:
RCV001577228
dbSNP Id:
rs1783185621
gnomAD v4:
6-129460309-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129460309A>G , CM000668.2:g.129460309A>G | GRCh38 |
| NC_000006.11:g.129781454A>G , CM000668.1:g.129781454A>G | GRCh37 |
| NC_000006.10:g.129823147A>G | NCBI36 |
| NG_008678.1:g.582169A>G , LRG_409:g.582169A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.6977A>G | ENSP00000481744.2:p.Lys2326Arg | |
| ENST00000618192.5:c.7241A>G | ENSP00000480802.2:p.Lys2414Arg | |
| ENST00000684985.1:n.608A>G | ||
| ENST00000688150.1:n.316A>G | ||
| ENST00000421865.3:c.6977A>G MANE Select | ENSP00000400365.2:p.Lys2326Arg | |
| ENST00000421865.2:c.6977A>G | ENSP00000400365.2:p.Lys2326Arg | |
| ENST00000617695.4:c.6977A>G | ENSP00000481744.1:p.Lys2326Arg | |
| ENST00000618192.4:c.6974A>G | ENSP00000480802.1:p.Lys2325Arg | |
| NM_000426.3:c.6977A>G , LRG_409t1:c.6977A>G | NP_000417.2:p.Lys2326Arg | |
| NM_001079823.1:c.6977A>G | NP_001073291.1:p.Lys2326Arg | |
| XM_005266981.2:c.7241A>G | XP_005267038.1:p.Lys2414Arg | |
| XM_005266982.2:c.7241A>G | XP_005267039.1:p.Lys2414Arg | |
| XM_011535820.1:c.7235A>G | XP_011534122.1:p.Lys2412Arg | |
| XM_005266981.3:c.7241A>G | XP_005267038.1:p.Lys2414Arg | |
| XM_005266982.3:c.7241A>G | XP_005267039.1:p.Lys2414Arg | |
| XM_011535820.2:c.7235A>G | XP_011534122.1:p.Lys2412Arg | |
| XM_017010851.2:c.7247A>G | XP_016866340.1:p.Lys2416Arg | |
| XM_017010852.1:c.5372A>G | XP_016866341.1:p.Lys1791Arg | |
| NM_000426.4:c.6977A>G MANE Select | NP_000417.3:p.Lys2326Arg | |
| NM_001079823.2:c.6977A>G | NP_001073291.2:p.Lys2326Arg |