Linked Data
dbSNP Id:
rs17708574
gnomAD v2:
5-149521238-G-A
gnomAD v3:
5-150141675-G-A
gnomAD v4:
5-150141675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150141675G>A , CM000667.2:g.150141675G>A | GRCh38 |
| NC_000005.9:g.149521238G>A , CM000667.1:g.149521238G>A | GRCh37 |
| NC_000005.8:g.149501431G>A | NCBI36 |
| NG_023367.1:g.19185C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261799.9:c.-6-4622C>T MANE Select | ENSP00000261799.4:n.-6-4622C>T | |
| ENST00000261799.8:c.-6-4622C>T | ENSP00000261799.4:n.-6-4622C>T | |
| ENST00000517488.1:c.-152-5797C>T | ENSP00000429218.1:n.-152-5797C>T | |
| ENST00000517660.1:n.465-4225C>T | ||
| ENST00000520579.5:c.-6-4622C>T | ENSP00000430026.1:n.-6-4622C>T | |
| NM_002609.3:c.-6-4622C>T | NP_002600.1:n.-6-4622C>T | |
| XM_005268464.2:c.-152-5797C>T | XP_005268521.1:n.-152-5797C>T | |
| XM_011537659.1:c.-6-4622C>T | XP_011535961.1:n.-6-4622C>T | |
| NM_001355016.1:c.-152-5797C>T | NP_001341945.1:n.-152-5797C>T | |
| NM_001355017.1:c.-523-4622C>T | NP_001341946.1:n.-523-4622C>T | |
| NM_002609.4:c.-6-4622C>T MANE Select | NP_002600.1:n.-6-4622C>T | |
| NM_001355016.2:c.-152-5797C>T | NP_001341945.1:n.-152-5797C>T | |
| NM_001355017.2:c.-523-4622C>T | NP_001341946.1:n.-523-4622C>T |