Linked Data
dbSNP Id:
rs11766298
gnomAD v2:
7-129004847-C-T
gnomAD v3:
7-129365006-C-T
gnomAD v4:
7-129365006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129365006C>T , CM000669.2:g.129365006C>T | GRCh38 |
| NC_000007.13:g.129004847C>T , CM000669.1:g.129004847C>T | GRCh37 |
| NC_000007.12:g.128792083C>T | NCBI36 |
| NG_029180.1:g.144993C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325006.8:c.364-14632C>T MANE Select | ENSP00000315931.3:n.364-14632C>T | |
| ENST00000325006.7:c.364-14632C>T | ENSP00000315931.3:n.364-14632C>T | |
| ENST00000446544.6:c.364-14635C>T | ENSP00000413639.2:n.364-14635C>T | |
| ENST00000461161.5:n.159+13345C>T | ||
| NM_001130720.2:c.364-14635C>T | NP_001124192.1:n.364-14635C>T | |
| NM_015328.3:c.364-14632C>T | NP_056143.1:n.364-14632C>T | |
| XR_927961.1:n.86-1533G>A | ||
| XM_017011904.1:c.-255-14635C>T | XP_016867393.1:n.-255-14635C>T | |
| XM_017011906.1:c.-258-14632C>T | XP_016867395.1:n.-258-14632C>T | |
| NM_001130720.3:c.364-14635C>T | NP_001124192.1:n.364-14635C>T | |
| NM_015328.4:c.364-14632C>T MANE Select | NP_056143.1:n.364-14632C>T | |
| NM_001393387.1:c.364-14632C>T | NP_001380316.1:n.364-14632C>T | |
| NR_171671.1:n.411-12536C>T |