Linked Data
dbSNP Id:
rs7955200
gnomAD v2:
12-26585829-C-T
gnomAD v3:
12-26432896-C-T
gnomAD v4:
12-26432896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26432896C>T , CM000674.2:g.26432896C>T | GRCh38 |
| NC_000012.11:g.26585829C>T , CM000674.1:g.26585829C>T | GRCh37 |
| NC_000012.10:g.26477096C>T | NCBI36 |
| NG_042142.1:g.405303G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381340.8:c.6769+3325G>A MANE Select | ENSP00000370744.3:n.6769+3325G>A | |
| ENST00000381340.7:c.6769+3325G>A | ENSP00000370744.3:n.6769+3325G>A | |
| ENST00000451599.6:c.1597+3325G>A | ENSP00000408287.2:n.1597+3325G>A | |
| NM_002223.2:c.6769+3325G>A | NP_002214.2:n.6769+3325G>A | |
| NM_002223.3:c.6769+3325G>A | NP_002214.2:n.6769+3325G>A | |
| XM_011520645.1:c.6217+3325G>A | XP_011518947.1:n.6217+3325G>A | |
| XM_011520646.1:c.5836+3325G>A | XP_011518948.1:n.5836+3325G>A | |
| XM_017019266.1:c.6829+3325G>A | XP_016874755.1:n.6829+3325G>A | |
| XM_017019267.1:c.6763+3325G>A | XP_016874756.1:n.6763+3325G>A | |
| XR_001748686.2:n.7245+3325G>A | ||
| NM_002223.4:c.6769+3325G>A MANE Select | NP_002214.2:n.6769+3325G>A |