Linked Data
dbSNP Id:
rs1035949191
gnomAD v2:
5-149535422-G-T
gnomAD v3:
5-150155859-G-T
gnomAD v4:
5-150155859-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150155859G>T , CM000667.2:g.150155859G>T | GRCh38 |
| NC_000005.9:g.149535422G>T , CM000667.1:g.149535422G>T | GRCh37 |
| NC_000005.8:g.149515615G>T | NCBI36 |
| NG_023367.1:g.5001C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.8:c.-469C>A | ENSP00000261799.4:n.-469C>A | |
| ENST00000517660.1:n.2C>A | ||
| ENST00000520579.5:c.-469C>A | ENSP00000430026.1:n.-469C>A | |
| ENST00000523456.1:n.14C>A | ||
| NM_002609.3:c.-469C>A | NP_002600.1:n.-469C>A | |
| XM_005268464.2:c.-615C>A | XP_005268521.1:n.-615C>A | |
| XM_011537659.1:c.-936C>A | XP_011535961.1:n.-936C>A | |
| NM_001355016.1:c.-615C>A | NP_001341945.1:n.-615C>A | |
| NM_001355017.1:c.-986C>A | NP_001341946.1:n.-986C>A | |
| NR_149150.1:n.1C>A |