Linked Data
dbSNP Id:
rs192838696
gnomAD v2:
1-51418553-C-T
gnomAD v3:
1-50952881-C-T
gnomAD v4:
1-50952881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.50952881C>T , CM000663.2:g.50952881C>T | GRCh38 |
| NC_000001.10:g.51418553C>T , CM000663.1:g.51418553C>T | GRCh37 |
| NC_000001.9:g.51191141C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396153.7:c.45+6886G>A MANE Select | ENSP00000379457.2:n.45+6886G>A | |
| ENST00000371778.5:c.21+6886G>A | ENSP00000360843.5:n.21+6886G>A | |
| ENST00000396153.6:c.45+6886G>A | ENSP00000379457.2:n.45+6886G>A | |
| ENST00000487898.1:n.67+6791G>A | ||
| NM_007051.2:c.45+6886G>A | NP_008982.1:n.45+6886G>A | |
| XM_017000136.1:c.-471+6886G>A | XP_016855625.1:n.-471+6886G>A | |
| XM_024452736.1:c.-471+6767G>A | XP_024308504.1:n.-471+6767G>A | |
| XR_002958535.1:n.728+6134G>A | ||
| NM_007051.3:c.45+6886G>A MANE Select | NP_008982.1:n.45+6886G>A |