Linked Data
ClinVar Variation Id:
1630474
ClinVar RCV Id:
RCV002121219
dbSNP Id:
rs553466522
gnomAD v3:
2-43894635-A-G
gnomAD v4:
2-43894635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894635A>G , CM000664.2:g.43894635A>G | GRCh38 |
| NC_000002.11:g.44121774A>G , CM000664.1:g.44121774A>G | GRCh37 |
| NC_000002.10:g.43975278A>G | NCBI36 |
| NG_008247.1:g.106371T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.531-6T>C | ||
| ENST00000681993.1:n.1453-6T>C | ||
| ENST00000682154.1:n.1335-6T>C | ||
| ENST00000682303.1:c.*3612-6T>C | ENSP00000508325.1:n.*3612-6T>C | |
| ENST00000682308.1:c.3826-6T>C | ENSP00000507056.1:n.3826-6T>C | |
| ENST00000682434.1:n.3450T>C | ||
| ENST00000682480.1:c.3919-6T>C | ENSP00000508344.1:n.3919-6T>C | |
| ENST00000682546.1:c.3898-6T>C | ENSP00000508188.1:n.3898-6T>C | |
| ENST00000682585.1:c.*29-6T>C | ENSP00000506885.1:n.*29-6T>C | |
| ENST00000682607.1:c.2644-6T>C | ||
| ENST00000682612.1:c.752+1999T>C | ||
| ENST00000682779.1:c.3892-6T>C | ENSP00000507947.1:n.3892-6T>C | |
| ENST00000682885.1:c.3856-6T>C | ENSP00000508036.1:n.3856-6T>C | |
| ENST00000682933.1:n.4101-6T>C | ||
| ENST00000683002.1:c.753-6T>C | ||
| ENST00000683072.1:n.4485-6T>C | ||
| ENST00000683080.1:n.1520-6T>C | ||
| ENST00000683096.1:n.2342-6T>C | ||
| ENST00000683125.1:c.4009-6T>C | ENSP00000507939.1:n.4009-6T>C | |
| ENST00000683213.1:c.3904-6T>C | ENSP00000507751.1:n.3904-6T>C | |
| ENST00000683220.1:c.3931-6T>C | ENSP00000507151.1:n.3931-6T>C | |
| ENST00000683329.1:n.4704-6T>C | ||
| ENST00000683346.1:c.*3776-6T>C | ENSP00000507458.1:n.*3776-6T>C | |
| ENST00000683409.1:n.2433-6T>C | ||
| ENST00000683459.1:n.4488-6T>C | ||
| ENST00000683590.1:c.3574-6T>C | ENSP00000506820.1:n.3574-6T>C | |
| ENST00000683623.1:c.3808-6T>C | ENSP00000507702.1:n.3808-6T>C | |
| ENST00000683796.1:c.*3698-6T>C | ENSP00000508221.1:n.*3698-6T>C | |
| ENST00000683833.1:c.3817-6T>C | ENSP00000506852.1:n.3817-6T>C | |
| ENST00000683994.1:c.*14-6T>C | ENSP00000507181.1:n.*14-6T>C | |
| ENST00000684290.1:c.*1362-6T>C | ENSP00000507243.1:n.*1362-6T>C | |
| ENST00000684306.1:c.*3814-6T>C | ENSP00000508384.1:n.*3814-6T>C | |
| ENST00000684383.1:c.*3539-6T>C | ENSP00000506863.1:n.*3539-6T>C | |
| ENST00000684418.1:n.5082-6T>C | ||
| ENST00000684433.1:n.285-6T>C | ||
| ENST00000684454.1:n.7759T>C | ||
| ENST00000684619.1:c.*3773-6T>C | ENSP00000508088.1:n.*3773-6T>C | |
| ENST00000684743.1:n.6646-6T>C | ||
| ENST00000260665.12:c.3901-6T>C MANE Select | ENSP00000260665.7:n.3901-6T>C | |
| ENST00000260665.11:c.3901-6T>C | ENSP00000260665.7:n.3901-6T>C | |
| ENST00000419884.5:c.142-6T>C | ENSP00000414207.1:n.142-6T>C | |
| ENST00000463456.5:n.2944-6T>C | ||
| NM_133259.3:c.3901-6T>C | NP_573566.2:n.3901-6T>C | |
| XM_006711915.2:c.3823-6T>C | XP_006711978.1:n.3823-6T>C | |
| XM_011532473.1:c.3826-6T>C | XP_011530775.1:n.3826-6T>C | |
| XM_011532474.1:c.3901-6T>C | XP_011530776.1:n.3901-6T>C | |
| XM_017003117.1:c.3748-6T>C | XP_016858606.1:n.3748-6T>C | |
| XR_002958896.1:n.3943-6T>C | ||
| NM_133259.4:c.3901-6T>C MANE Select | NP_573566.2:n.3901-6T>C |