Linked Data
dbSNP Id:
rs2081214068
gnomAD v3:
18-23905548-A-G
gnomAD v4:
18-23905548-A-G
MyVariant Identifiers:
chr18:g.21485512A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23905548A>G , CM000680.2:g.23905548A>G | GRCh38 |
| NC_000018.9:g.21485512A>G , CM000680.1:g.21485512A>G | GRCh37 |
| NC_000018.8:g.19739510A>G | NCBI36 |
| NG_007853.2:g.220951A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.1815A>G MANE Plus Clinical | ENSP00000269217.5:p.Arg605= | |
| ENST00000313654.14:c.6642A>G MANE Select | ENSP00000324532.8:p.Arg2214= | |
| ENST00000649721.1:c.3534A>G | ENSP00000497885.1:p.Arg1178= | |
| ENST00000269217.10:c.1815A>G | ENSP00000269217.5:p.Arg605= | |
| ENST00000313654.13:c.6642A>G | ENSP00000324532.8:p.Arg2214= | |
| ENST00000399516.7:c.6474A>G | ENSP00000382432.2:p.Arg2158= | |
| ENST00000586751.5:c.1420A>G | ||
| ENST00000587184.5:c.1647A>G | ENSP00000466557.1:p.Arg549= | |
| ENST00000588770.5:n.1220A>G | ||
| NM_000227.4:c.1815A>G | NP_000218.3:p.Arg605= | |
| NM_001127717.2:c.6474A>G | NP_001121189.2:p.Arg2158= | |
| NM_001127718.2:c.1647A>G | NP_001121190.2:p.Arg549= | |
| NM_198129.2:c.6642A>G | NP_937762.2:p.Arg2214= | |
| XM_011525978.1:c.6669A>G | XP_011524280.1:p.Arg2223= | |
| XM_011525979.1:c.6660A>G | XP_011524281.1:p.Arg2220= | |
| XM_011525980.1:c.6651A>G | XP_011524282.1:p.Arg2217= | |
| XM_011525981.1:c.6537A>G | XP_011524283.1:p.Arg2179= | |
| XM_011525982.1:c.6669A>G | XP_011524284.1:p.Arg2223= | |
| XM_011525978.2:c.6669A>G | XP_011524280.1:p.Arg2223= | |
| XM_011525979.2:c.6660A>G | XP_011524281.1:p.Arg2220= | |
| XM_011525980.2:c.6651A>G | XP_011524282.1:p.Arg2217= | |
| XM_011525981.2:c.6537A>G | XP_011524283.1:p.Arg2179= | |
| XM_011525982.2:c.6669A>G | XP_011524284.1:p.Arg2223= | |
| XM_017025743.1:c.4521A>G | XP_016881232.1:p.Arg1507= | |
| XM_017025744.1:c.2211A>G | XP_016881233.1:p.Arg737= | |
| XR_001753199.1:n.6910A>G | ||
| NM_000227.5:c.1815A>G | NP_000218.3:p.Arg605= | |
| NM_001127717.3:c.6474A>G | NP_001121189.2:p.Arg2158= | |
| NM_001127718.3:c.1647A>G | NP_001121190.2:p.Arg549= | |
| NM_198129.3:c.6642A>G | NP_937762.2:p.Arg2214= | |
| NM_000227.6:c.1815A>G MANE Plus Clinical | NP_000218.3:p.Arg605= | |
| NM_001127717.4:c.6474A>G | NP_001121189.2:p.Arg2158= | |
| NM_001127718.4:c.1647A>G | NP_001121190.2:p.Arg549= | |
| NM_198129.4:c.6642A>G MANE Select | NP_937762.2:p.Arg2214= |