Linked Data
dbSNP Id:
rs1478852791
gnomAD v4:
7-75582000-C-T
MyVariant Identifiers:
chr7:g.75582000C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75582000C>T , CM000669.2:g.75582000C>T | GRCh38 |
| NC_000007.13:g.75211316C>T , CM000669.1:g.75211316C>T | GRCh37 |
| NC_000007.12:g.75049252C>T | NCBI36 |
| NG_023251.2:g.161962G>A | |
| NG_023251.3:g.161962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336926.11:c.542+75G>A MANE Select | ENSP00000336747.6:n.542+75G>A | |
| ENST00000336926.10:c.542+75G>A | ENSP00000336747.6:n.542+75G>A | |
| ENST00000434438.6:c.542+75G>A | ENSP00000410300.2:n.542+75G>A | |
| ENST00000616821.4:c.455+75G>A | ENSP00000484528.1:n.455+75G>A | |
| NM_001243198.2:c.542+75G>A | NP_001230127.1:n.542+75G>A | |
| NM_005338.6:c.542+75G>A | NP_005329.3:n.542+75G>A | |
| XM_005250304.2:c.455+75G>A | XP_005250361.1:n.455+75G>A | |
| XM_005250305.2:c.440+75G>A | XP_005250362.1:n.440+75G>A | |
| XM_011516116.1:c.542+75G>A | XP_011514418.1:n.542+75G>A | |
| XM_011516116.2:c.542+75G>A | XP_011514418.1:n.542+75G>A | |
| XM_017012099.1:c.500+75G>A | XP_016867588.1:n.500+75G>A | |
| NM_005338.7:c.542+75G>A MANE Select | NP_005329.3:n.542+75G>A | |
| NM_001243198.3:c.542+75G>A | NP_001230127.1:n.542+75G>A | |
| NM_001382444.1:c.440+75G>A | NP_001369373.1:n.440+75G>A | |
| NM_001382445.1:c.455+75G>A | NP_001369374.1:n.455+75G>A |