Linked Data
dbSNP Id:
rs1994969
gnomAD v2:
17-47080431-G-T
gnomAD v3:
17-49003069-G-T
gnomAD v4:
17-49003069-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49003069G>T , CM000679.2:g.49003069G>T | GRCh38 |
| NC_000017.10:g.47080431G>T , CM000679.1:g.47080431G>T | GRCh37 |
| NC_000017.9:g.44435430G>T | NCBI36 |
| NG_030585.1:g.10658G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290341.8:c.236+3900G>T MANE Select | ENSP00000290341.3:n.236+3900G>T | |
| ENST00000290341.7:c.236+3900G>T | ENSP00000290341.3:n.236+3900G>T | |
| ENST00000431824.2:c.236+3900G>T | ENSP00000389135.2:n.236+3900G>T | |
| ENST00000510023.5:n.497-1532G>T | ||
| ENST00000515586.5:n.219+3900G>T | ||
| NM_001160423.1:c.236+3900G>T | NP_001153895.1:n.236+3900G>T | |
| NM_006546.3:c.236+3900G>T | NP_006537.3:n.236+3900G>T | |
| XM_011524201.1:c.236+3900G>T | XP_011522503.1:n.236+3900G>T | |
| XM_011524201.2:c.236+3900G>T | XP_011522503.1:n.236+3900G>T | |
| XM_017024022.1:c.236+3900G>T | XP_016879511.1:n.236+3900G>T | |
| NM_006546.4:c.236+3900G>T MANE Select | NP_006537.3:n.236+3900G>T | |
| NM_001160423.2:c.236+3900G>T | NP_001153895.1:n.236+3900G>T |