Linked Data
dbSNP Id:
rs2315008
gnomAD v2:
20-62343956-T-G
gnomAD v3:
20-63712604-T-G
gnomAD v4:
20-63712604-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63712604T>G , CM000682.2:g.63712604T>G | GRCh38 |
| NC_000020.10:g.62343956T>G , CM000682.1:g.62343956T>G | GRCh37 |
| NC_000020.9:g.61814400T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355969.11:c.584+3440T>G MANE Select | ENSP00000348242.6:n.584+3440T>G | |
| ENST00000328969.5:c.584+3440T>G | ENSP00000332013.5:n.584+3440T>G | |
| ENST00000355969.10:c.584+3440T>G | ENSP00000348242.6:n.584+3440T>G | |
| ENST00000357119.8:c.584+3440T>G | ENSP00000349634.4:n.584+3440T>G | |
| ENST00000369967.7:c.584+3440T>G | ENSP00000358984.3:n.584+3440T>G | |
| ENST00000448100.6:c.584+3440T>G | ENSP00000391176.1:n.584+3440T>G | |
| ENST00000468235.1:n.76+3440T>G | ||
| ENST00000472711.5:n.284+3440T>G | ||
| ENST00000477340.5:n.692+3440T>G | ||
| ENST00000478385.5:n.167+3440T>G | ||
| ENST00000490623.3:c.301+3440T>G | ||
| NM_001083113.1:c.584+3440T>G | NP_001076582.1:n.584+3440T>G | |
| NM_001195653.1:c.584+3440T>G | NP_001182582.1:n.584+3440T>G | |
| NM_001195654.1:c.584+3440T>G | NP_001182583.1:n.584+3440T>G | |
| NM_032527.4:c.584+3440T>G | NP_115916.3:n.584+3440T>G | |
| NM_181485.2:c.584+3440T>G | NP_852150.2:n.584+3440T>G | |
| NM_001083113.2:c.584+3440T>G | NP_001076582.1:n.584+3440T>G | |
| NM_001195653.2:c.584+3440T>G | NP_001182582.1:n.584+3440T>G | |
| NM_001195654.2:c.584+3440T>G | NP_001182583.1:n.584+3440T>G | |
| NM_032527.5:c.584+3440T>G | NP_115916.3:n.584+3440T>G | |
| NM_181485.3:c.584+3440T>G MANE Select | NP_852150.2:n.584+3440T>G |