Linked Data
dbSNP Id:
rs10951671
gnomAD v2:
7-42229946-C-T
gnomAD v3:
7-42190347-C-T
gnomAD v4:
7-42190347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42190347C>T , CM000669.2:g.42190347C>T | GRCh38 |
| NC_000007.13:g.42229946C>T , CM000669.1:g.42229946C>T | GRCh37 |
| NC_000007.12:g.42196471C>T | NCBI36 |
| NG_008434.1:g.51673G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.124+32783G>A MANE Select | ENSP00000379258.3:n.124+32783G>A | |
| ENST00000677605.1:c.124+32783G>A | ENSP00000503743.1:n.124+32783G>A | |
| ENST00000678429.1:c.124+32783G>A | ENSP00000502957.1:n.124+32783G>A | |
| ENST00000395925.7:c.124+32783G>A | ENSP00000379258.3:n.124+32783G>A | |
| ENST00000437480.1:c.125-17661G>A | ENSP00000407963.1:n.125-17661G>A | |
| ENST00000448703.5:c.124+32783G>A | ENSP00000406135.1:n.124+32783G>A | |
| NM_000168.5:c.124+32783G>A | NP_000159.3:n.124+32783G>A | |
| XM_005249703.1:c.124+32783G>A | XP_005249760.1:n.124+32783G>A | |
| XM_005249704.2:c.124+32783G>A | XP_005249761.1:n.124+32783G>A | |
| XM_011515272.1:c.124+32783G>A | XP_011513574.1:n.124+32783G>A | |
| XM_011515273.1:c.124+32783G>A | XP_011513575.1:n.124+32783G>A | |
| NM_000168.6:c.124+32783G>A MANE Select | NP_000159.3:n.124+32783G>A |