Linked Data
ClinVar Variation Id:
103081
ClinVar RCV Id:
RCV000089341
dbSNP Id:
rs199476299
gnomAD v2:
2-32460368-A-G
gnomAD v3:
2-32235299-A-G
gnomAD v4:
2-32235299-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32235299A>G , CM000664.2:g.32235299A>G | GRCh38 |
| NC_000002.11:g.32460368A>G , CM000664.1:g.32460368A>G | GRCh37 |
| NC_000002.10:g.32313872A>G | NCBI36 |
| NG_041780.1:g.35445T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.475+102T>C | ENSP00000498301.2:n.475+102T>C | |
| ENST00000402280.6:c.2782+102T>C MANE Select | ENSP00000385428.1:n.2782+102T>C | |
| ENST00000404025.3:c.*488+102T>C | ENSP00000385090.3:n.*488+102T>C | |
| ENST00000652197.1:c.*512+102T>C | ENSP00000498301.1:n.*512+102T>C | |
| ENST00000342905.10:c.787+102T>C | ENSP00000339666.6:n.787+102T>C | |
| ENST00000360906.9:c.2782+102T>C | ENSP00000354159.5:n.2782+102T>C | |
| ENST00000402280.5:c.2782+102T>C | ENSP00000385428.1:n.2782+102T>C | |
| ENST00000404025.2:c.2782+102T>C | ENSP00000385090.2:n.2782+102T>C | |
| NM_001199138.1:c.2782+102T>C | NP_001186067.1:n.2782+102T>C | |
| NM_001199139.1:c.2782+102T>C | NP_001186068.1:n.2782+102T>C | |
| NM_001302504.1:c.787+102T>C | NP_001289433.1:n.787+102T>C | |
| NM_021209.4:c.2782+102T>C | NP_067032.3:n.2782+102T>C | |
| XR_001738872.1:n.3048+102T>C | ||
| NM_001199138.2:c.2782+102T>C MANE Select | NP_001186067.1:n.2782+102T>C |