Linked Data
dbSNP Id:
rs1167796
gnomAD v3:
7-75543861-G-A
gnomAD v4:
7-75543861-G-A
MyVariant Identifiers:
chr7:g.75543861G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75543861G>A , CM000669.2:g.75543861G>A | GRCh38 |
| NG_023251.2:g.200101C>T | |
| NG_023251.3:g.200101C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336926.11:c.2766+834C>T MANE Select | ENSP00000336747.6:n.2766+834C>T | |
| ENST00000336926.10:c.2766+834C>T | ENSP00000336747.6:n.2766+834C>T | |
| ENST00000434438.6:c.2613+834C>T | ENSP00000410300.2:n.2613+834C>T | |
| ENST00000616821.4:c.2679+834C>T | ENSP00000484528.1:n.2679+834C>T | |
| NM_001243198.2:c.2613+834C>T | NP_001230127.1:n.2613+834C>T | |
| NM_005338.6:c.2766+834C>T | NP_005329.3:n.2766+834C>T | |
| XM_005250304.2:c.2679+834C>T | XP_005250361.1:n.2679+834C>T | |
| XM_005250305.2:c.2664+834C>T | XP_005250362.1:n.2664+834C>T | |
| XM_011516116.1:c.2766+834C>T | XP_011514418.1:n.2766+834C>T | |
| XM_011516116.2:c.2766+834C>T | XP_011514418.1:n.2766+834C>T | |
| XM_017012099.1:c.2724+834C>T | XP_016867588.1:n.2724+834C>T | |
| NM_005338.7:c.2766+834C>T MANE Select | NP_005329.3:n.2766+834C>T | |
| NM_001243198.3:c.2613+834C>T | NP_001230127.1:n.2613+834C>T | |
| NM_001382444.1:c.2664+834C>T | NP_001369373.1:n.2664+834C>T | |
| NM_001382445.1:c.2679+834C>T | NP_001369374.1:n.2679+834C>T |