Linked Data
dbSNP Id:
rs7618501
gnomAD v2:
3-49772647-A-G
gnomAD v3:
3-49735214-A-G
gnomAD v4:
3-49735214-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49735214A>G , CM000665.2:g.49735214A>G | GRCh38 |
| NC_000003.11:g.49772647A>G , CM000665.1:g.49772647A>G | GRCh37 |
| NC_000003.10:g.49747651A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321599.9:c.435-2242T>C MANE Select | ENSP00000323780.4:n.435-2242T>C | |
| ENST00000321599.8:c.435-2242T>C | ENSP00000323780.4:n.435-2242T>C | |
| ENST00000395238.5:c.-61-2242T>C | ENSP00000378659.1:n.-61-2242T>C | |
| ENST00000460540.1:c.-61-2242T>C | ENSP00000420762.1:n.-61-2242T>C | |
| ENST00000468463.5:c.435-2242T>C | ENSP00000420467.1:n.435-2242T>C | |
| ENST00000613416.4:c.435-2242T>C | ENSP00000482032.1:n.435-2242T>C | |
| NM_001006115.2:c.-61-2242T>C | NP_001006115.1:n.-61-2242T>C | |
| NM_001242829.1:c.435-2242T>C | NP_001229758.1:n.435-2242T>C | |
| NM_153273.3:c.435-2242T>C | NP_695005.1:n.435-2242T>C | |
| NM_153273.4:c.435-2242T>C MANE Select | NP_695005.1:n.435-2242T>C | |
| NM_001006115.3:c.-61-2242T>C | NP_001006115.1:n.-61-2242T>C | |
| NM_001242829.2:c.435-2242T>C | NP_001229758.1:n.435-2242T>C |