Linked Data
dbSNP Id:
rs11756438
gnomAD v2:
6-118993632-C-A
gnomAD v3:
6-118672469-C-A
gnomAD v4:
6-118672469-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118672469C>A , CM000668.2:g.118672469C>A | GRCh38 |
| NC_000006.11:g.118993632C>A , CM000668.1:g.118993632C>A | GRCh37 |
| NC_000006.10:g.119100325C>A | NCBI36 |
| NG_021248.1:g.42607G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368488.9:c.-27-19661G>T | ENSP00000357474.5:n.-27-19661G>T | |
| ENST00000392500.7:c.-138-7948G>T | ENSP00000376288.3:n.-138-7948G>T | |
| ENST00000434604.5:c.-27-19661G>T | ENSP00000392131.1:n.-27-19661G>T | |
| NM_001178035.1:c.-27-19661G>T | NP_001171506.1:n.-27-19661G>T | |
| XM_011535811.1:c.-234+37567G>T | XP_011534113.1:n.-234+37567G>T | |
| XR_942917.1:n.544+7319C>A | ||
| XR_942918.1:n.545-6775C>A | ||
| XM_011535810.2:c.-138-7948G>T | XP_011534112.1:n.-138-7948G>T | |
| XM_017010846.1:c.-138-7948G>T | XP_016866335.1:n.-138-7948G>T | |
| XM_024446429.1:c.-1650-7948G>T | XP_024302197.1:n.-1650-7948G>T | |
| XM_024446430.1:c.-1650-7948G>T | XP_024302198.1:n.-1650-7948G>T | |
| NM_001178035.2:c.-27-19661G>T | NP_001171506.1:n.-27-19661G>T |