Linked Data
ClinVar Variation Id:
2172601
ClinVar RCV Id:
RCV003090604
MyVariant Identifiers:
chr18:g.21529869A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23949905A>G , CM000680.2:g.23949905A>G | GRCh38 |
| NC_000018.9:g.21529869A>G , CM000680.1:g.21529869A>G | GRCh37 |
| NC_000018.8:g.19783867A>G | NCBI36 |
| NG_007853.2:g.265308A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.4665A>G MANE Plus Clinical | ENSP00000269217.5:p.Glu1555= | |
| ENST00000313654.14:c.9492A>G MANE Select | ENSP00000324532.8:p.Glu3164= | |
| ENST00000649721.1:c.6087A>G | ENSP00000497885.1:p.Glu2029= | |
| ENST00000269217.10:c.4665A>G | ENSP00000269217.5:p.Glu1555= | |
| ENST00000313654.13:c.9492A>G | ENSP00000324532.8:p.Glu3164= | |
| ENST00000399516.7:c.9324A>G | ENSP00000382432.2:p.Glu3108= | |
| ENST00000587184.5:c.4497A>G | ENSP00000466557.1:p.Glu1499= | |
| ENST00000588004.1:c.13A>G | ||
| ENST00000588770.5:n.4070A>G | ||
| NM_000227.4:c.4665A>G | NP_000218.3:p.Glu1555= | |
| NM_001127717.2:c.9324A>G | NP_001121189.2:p.Glu3108= | |
| NM_001127718.2:c.4497A>G | NP_001121190.2:p.Glu1499= | |
| NM_198129.2:c.9492A>G | NP_937762.2:p.Glu3164= | |
| XM_011525978.1:c.9519A>G | XP_011524280.1:p.Glu3173= | |
| XM_011525979.1:c.9510A>G | XP_011524281.1:p.Glu3170= | |
| XM_011525980.1:c.9501A>G | XP_011524282.1:p.Glu3167= | |
| XM_011525981.1:c.9387A>G | XP_011524283.1:p.Glu3129= | |
| XM_011525982.1:c.9222A>G | XP_011524284.1:p.Glu3074= | |
| XM_011525978.2:c.9519A>G | XP_011524280.1:p.Glu3173= | |
| XM_011525979.2:c.9510A>G | XP_011524281.1:p.Glu3170= | |
| XM_011525980.2:c.9501A>G | XP_011524282.1:p.Glu3167= | |
| XM_011525981.2:c.9387A>G | XP_011524283.1:p.Glu3129= | |
| XM_011525982.2:c.9222A>G | XP_011524284.1:p.Glu3074= | |
| XM_017025743.1:c.7371A>G | XP_016881232.1:p.Glu2457= | |
| XM_017025744.1:c.5061A>G | XP_016881233.1:p.Glu1687= | |
| XR_001753199.1:n.9760A>G | ||
| NM_000227.5:c.4665A>G | NP_000218.3:p.Glu1555= | |
| NM_001127717.3:c.9324A>G | NP_001121189.2:p.Glu3108= | |
| NM_001127718.3:c.4497A>G | NP_001121190.2:p.Glu1499= | |
| NM_198129.3:c.9492A>G | NP_937762.2:p.Glu3164= | |
| NM_000227.6:c.4665A>G MANE Plus Clinical | NP_000218.3:p.Glu1555= | |
| NM_001127717.4:c.9324A>G | NP_001121189.2:p.Glu3108= | |
| NM_001127718.4:c.4497A>G | NP_001121190.2:p.Glu1499= | |
| NM_198129.4:c.9492A>G MANE Select | NP_937762.2:p.Glu3164= |