Linked Data
ClinVar Variation Id:
630169
dbSNP Id:
rs374856617
ExAC:
1:55527157 C / T
gnomAD v2:
1-55527157-C-T
gnomAD v3:
1-55061484-C-T
gnomAD v4:
1-55061484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061484C>T , CM000663.2:g.55061484C>T | GRCh38 |
| NC_000001.10:g.55527157C>T , CM000663.1:g.55527157C>T | GRCh37 |
| NC_000001.9:g.55299745C>T | NCBI36 |
| NG_009061.1:g.26938C>T , LRG_275:g.26938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*131C>T | ENSP00000501161.2:n.*131C>T | |
| ENST00000710286.1:c.2148C>T | ENSP00000518176.1:p.His716= | |
| ENST00000673903.1:c.1416C>T | ENSP00000501257.1:p.His472= | |
| ENST00000673913.1:c.641C>T | ENSP00000501161.1:n.641C>T | |
| ENST00000302118.5:c.1791C>T MANE Select | ENSP00000303208.5:p.His597= | |
| ENST00000490692.1:n.2337C>T | ||
| NM_174936.3:c.1791C>T , LRG_275t1:c.1791C>T | NP_777596.2:p.His597= | |
| NR_110451.1:n.1398C>T | ||
| XM_011541193.1:c.912C>T | XP_011539495.1:p.His304= | |
| NM_174936.4:c.1791C>T MANE Select | NP_777596.2:p.His597= | |
| NR_110451.2:n.1398C>T |