Linked Data
ClinVar Variation Id:
764512
ClinVar RCV Id:
RCV000942862
dbSNP Id:
rs768182597
ExAC:
4:39462532 G / A
gnomAD v2:
4-39462532-G-A
gnomAD v3:
4-39460912-G-A
gnomAD v4:
4-39460912-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39460912G>A , CM000666.2:g.39460912G>A | GRCh38 |
| NC_000004.11:g.39462532G>A , CM000666.1:g.39462532G>A | GRCh37 |
| NC_000004.10:g.39138927G>A | NCBI36 |
| NG_032111.1:g.6868G>A | |
| NG_052985.1:g.3037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261434.8:c.168G>A | ENSP00000261434.4:p.Arg56= | |
| ENST00000340169.7:c.168G>A | ENSP00000340676.2:p.Arg56= | |
| ENST00000381846.2:c.168G>A | ENSP00000371270.1:p.Arg56= | |
| ENST00000513731.6:c.168G>A | ENSP00000425580.1:p.Arg56= | |
| ENST00000638422.1:c.168G>A | ENSP00000491001.1:p.Arg56= | |
| ENST00000638430.1:c.40G>A | ||
| ENST00000638451.1:c.168G>A | ENSP00000491681.1:p.Arg56= | |
| ENST00000638816.1:c.39G>A | ENSP00000492482.1:p.Arg13= | |
| ENST00000638837.1:c.168G>A | ENSP00000492038.1:p.Arg56= | |
| ENST00000639422.1:c.168G>A | ENSP00000491899.1:p.Arg56= | |
| ENST00000640349.1:c.168G>A | ENSP00000491477.1:p.Arg56= | |
| ENST00000640381.1:n.228G>A | ||
| ENST00000640489.1:c.*67G>A | ENSP00000492540.1:n.*67G>A | |
| ENST00000640689.1:c.168G>A | ENSP00000491591.1:p.Arg56= | |
| ENST00000640888.2:c.168G>A MANE Select | ENSP00000492260.1:p.Arg56= | |
| ENST00000261434.7:c.168G>A | ENSP00000261434.3:p.Arg56= | |
| ENST00000340169.6:c.168G>A | ENSP00000340676.2:p.Arg56= | |
| ENST00000381846.1:c.168G>A | ENSP00000371270.1:p.Arg56= | |
| ENST00000424936.6:n.228G>A | ||
| ENST00000509519.5:n.241G>A | ||
| ENST00000513731.5:c.168G>A | ENSP00000425580.1:p.Arg56= | |
| ENST00000515061.1:n.166G>A | ||
| NM_001278590.1:c.168G>A | NP_001265519.1:p.Arg56= | |
| NM_001278591.1:c.168G>A | NP_001265520.1:p.Arg56= | |
| NM_001278592.1:c.168G>A | NP_001265521.1:p.Arg56= | |
| NM_006859.3:c.168G>A | NP_006850.2:p.Arg56= | |
| NM_194451.2:c.168G>A | NP_919433.1:p.Arg56= | |
| XM_006713990.2:c.168G>A | XP_006714053.1:p.Arg56= | |
| NM_001363700.1:c.168G>A | NP_001350629.1:p.Arg56= | |
| XM_006713990.3:c.168G>A | XP_006714053.1:p.Arg56= | |
| XM_017007665.2:c.168G>A | XP_016863154.1:p.Arg56= | |
| XR_001741096.2:n.256G>A | ||
| NM_001278590.2:c.168G>A | NP_001265519.1:p.Arg56= | |
| NM_001363700.2:c.168G>A | NP_001350629.1:p.Arg56= | |
| NM_006859.4:c.168G>A MANE Select | NP_006850.2:p.Arg56= | |
| NM_194451.3:c.168G>A | NP_919433.1:p.Arg56= | |
| NM_001278591.2:c.168G>A | NP_001265520.1:p.Arg56= | |
| NM_001278592.2:c.168G>A | NP_001265521.1:p.Arg56= |