Linked Data
ClinVar Variation Id:
130104
dbSNP Id:
rs34780140
ExAC:
18:20573434 T / C
gnomAD v2:
18-20573434-T-C
gnomAD v3:
18-22993471-T-C
gnomAD v4:
18-22993471-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22993471T>C , CM000680.2:g.22993471T>C | GRCh38 |
| NC_000018.9:g.20573434T>C , CM000680.1:g.20573434T>C | GRCh37 |
| NC_000018.8:g.18827432T>C | NCBI36 |
| NG_012121.1:g.65140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327155.10:c.1644T>C MANE Select | ENSP00000323050.5:p.Asp548= | |
| ENST00000327155.9:c.1644T>C | ENSP00000323050.5:p.Asp548= | |
| ENST00000360790.9:c.1644T>C | ENSP00000354024.5:p.Asp548= | |
| ENST00000399721.6:c.1644T>C | ENSP00000382627.2:p.Asp548= | |
| ENST00000399722.6:c.1644T>C | ENSP00000382628.2:p.Asp548= | |
| ENST00000399725.6:c.1644T>C | ENSP00000382630.2:p.Asp548= | |
| NM_002894.2:c.1644T>C | NP_002885.1:p.Asp548= | |
| NM_203291.1:c.1644T>C | NP_976036.1:p.Asp548= | |
| NM_203292.1:c.1644T>C | NP_976037.1:p.Asp548= | |
| XM_005258325.1:c.1644T>C | XP_005258382.1:p.Asp548= | |
| XM_005258326.2:c.822T>C | XP_005258383.1:p.Asp274= | |
| XM_006722519.1:c.1644T>C | XP_006722582.1:p.Asp548= | |
| XM_006722520.1:c.1644T>C | XP_006722583.1:p.Asp548= | |
| XM_006722521.1:c.1644T>C | XP_006722584.1:p.Asp548= | |
| XM_011526132.1:c.1644T>C | XP_011524434.1:p.Asp548= | |
| XM_005258325.3:c.1644T>C | XP_005258382.1:p.Asp548= | |
| XM_005258326.4:c.822T>C | XP_005258383.1:p.Asp274= | |
| XM_006722519.2:c.1644T>C | XP_006722582.1:p.Asp548= | |
| XM_006722520.2:c.1644T>C | XP_006722583.1:p.Asp548= | |
| XM_006722521.2:c.1644T>C | XP_006722584.1:p.Asp548= | |
| XM_011526132.2:c.1644T>C | XP_011524434.1:p.Asp548= | |
| XM_017025916.1:c.822T>C | XP_016881405.1:p.Asp274= | |
| XM_024451233.1:c.1350T>C | XP_024307001.1:p.Asp450= | |
| NM_002894.3:c.1644T>C MANE Select | NP_002885.1:p.Asp548= | |
| NM_203291.2:c.1644T>C | NP_976036.1:p.Asp548= | |
| NM_203292.2:c.1644T>C | NP_976037.1:p.Asp548= |