Linked Data
ClinVar Variation Id:
293315
dbSNP Id:
rs750777955
ExAC:
1:161279744 G / T
gnomAD v2:
1-161279744-G-T
gnomAD v4:
1-161309954-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161309954G>T , CM000663.2:g.161309954G>T | GRCh38 |
| NC_000001.10:g.161279744G>T , CM000663.1:g.161279744G>T | GRCh37 |
| NC_000001.9:g.159546368G>T | NCBI36 |
| NG_008055.1:g.5019C>A , LRG_256:g.5019C>A | |
| NG_012767.1:g.579G>T , LRG_317:g.579G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.-49C>A | ENSP00000488104.2:n.-49C>A | |
| ENST00000533357.5:c.-49C>A MANE Select | ENSP00000432943.1:n.-49C>A | |
| ENST00000672602.2:c.-49C>A | ENSP00000500814.2:n.-49C>A | |
| ENST00000674861.1:n.15C>A | ||
| ENST00000463290.5:c.-49C>A | ENSP00000431538.1:n.-49C>A | |
| ENST00000533357.4:c.-49C>A | ENSP00000432943.1:n.-49C>A | |
| NM_000530.6:c.-49C>A , LRG_256t1:c.-49C>A | NP_000521.2:n.-49C>A | |
| NM_000530.7:c.-49C>A | NP_000521.2:n.-49C>A | |
| NM_001315491.1:c.-49C>A | NP_001302420.1:n.-49C>A | |
| XM_017001321.2:c.-19C>A | XP_016856810.1:n.-19C>A | |
| NM_000530.8:c.-49C>A MANE Select | NP_000521.2:n.-49C>A | |
| NM_001315491.2:c.-49C>A | NP_001302420.1:n.-49C>A |