Linked Data
dbSNP Id:
rs17526722
gnomAD v2:
6-25918855-G-A
gnomAD v3:
6-25918627-G-A
gnomAD v4:
6-25918627-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25918627G>A , CM000668.2:g.25918627G>A | GRCh38 |
| NC_000006.11:g.25918855G>A , CM000668.1:g.25918855G>A | GRCh37 |
| NC_000006.10:g.26026834G>A | NCBI36 |
| NG_034000.1:g.17100C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377850.8:c.563-54C>T MANE Select | ENSP00000367081.3:n.563-54C>T | |
| ENST00000265425.3:c.563-54C>T | ENSP00000265425.3:n.563-54C>T | |
| ENST00000360488.7:c.563-54C>T | ENSP00000353677.3:n.563-54C>T | |
| ENST00000377850.7:c.563-54C>T | ENSP00000367081.3:n.563-54C>T | |
| NM_001286123.1:c.563-54C>T | NP_001273052.1:n.563-54C>T | |
| NM_001286125.1:c.563-54C>T | NP_001273054.1:n.563-54C>T | |
| NM_005835.3:c.563-54C>T | NP_005826.1:n.563-54C>T | |
| XM_005248784.2:c.563-54C>T | XP_005248841.1:n.563-54C>T | |
| XM_006714949.2:c.563-54C>T | XP_006715012.1:n.563-54C>T | |
| XM_006714950.1:c.494-54C>T | XP_006715013.1:n.494-54C>T | |
| XM_006714951.1:c.563-54C>T | XP_006715014.1:n.563-54C>T | |
| XM_011514227.1:c.563-54C>T | XP_011512529.1:n.563-54C>T | |
| XM_006714949.3:c.563-54C>T | XP_006715012.1:n.563-54C>T | |
| XM_006714950.2:c.494-54C>T | XP_006715013.1:n.494-54C>T | |
| XM_017010159.1:c.494-54C>T | XP_016865648.1:n.494-54C>T | |
| XM_017010160.1:c.563-54C>T | XP_016865649.1:n.563-54C>T | |
| NM_001286123.3:c.563-54C>T MANE Select | NP_001273052.1:n.563-54C>T | |
| NM_001286125.2:c.563-54C>T | NP_001273054.1:n.563-54C>T | |
| NM_005835.4:c.563-54C>T | NP_005826.1:n.563-54C>T |