Linked Data
dbSNP Id:
rs2073559
gnomAD v2:
7-103318924-C-T
gnomAD v3:
7-103678477-C-T
gnomAD v4:
7-103678477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103678477C>T , CM000669.2:g.103678477C>T | GRCh38 |
| NC_000007.13:g.103318924C>T , CM000669.1:g.103318924C>T | GRCh37 |
| NC_000007.12:g.103106160C>T | NCBI36 |
| NG_011877.1:g.316040G>A | |
| NG_011877.2:g.316040G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.1289+3639G>A | ENSP00000388446.3:n.1289+3639G>A | |
| ENST00000428762.6:c.1289+3639G>A MANE Select | ENSP00000392423.1:n.1289+3639G>A | |
| ENST00000473457.2:n.1553+3639G>A | ||
| ENST00000679867.1:n.1173+3639G>A | ||
| ENST00000680712.1:n.1006+3639G>A | ||
| ENST00000681034.1:c.1289+3639G>A | ENSP00000506075.1:n.1289+3639G>A | |
| ENST00000681931.1:n.1173+3639G>A | ||
| ENST00000343529.9:c.1289+3639G>A | ENSP00000345694.5:n.1289+3639G>A | |
| ENST00000424685.2:c.1289+3639G>A | ENSP00000388446.2:n.1289+3639G>A | |
| ENST00000428762.5:c.1289+3639G>A | ENSP00000392423.1:n.1289+3639G>A | |
| NM_005045.3:c.1289+3639G>A | NP_005036.2:n.1289+3639G>A | |
| NM_173054.2:c.1289+3639G>A | NP_774959.1:n.1289+3639G>A | |
| NM_005045.4:c.1289+3639G>A MANE Select | NP_005036.2:n.1289+3639G>A | |
| NM_173054.3:c.1289+3639G>A | NP_774959.1:n.1289+3639G>A |