Linked Data
dbSNP Id:
rs4628172
gnomAD v2:
7-15495150-T-G
gnomAD v3:
7-15455525-T-G
gnomAD v4:
7-15455525-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.15455525T>G , CM000669.2:g.15455525T>G | GRCh38 |
| NC_000007.13:g.15495150T>G , CM000669.1:g.15495150T>G | GRCh37 |
| NC_000007.12:g.15461675T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342526.8:c.410-24417A>C MANE Select | ENSP00000341662.3:n.410-24417A>C | |
| ENST00000342526.7:c.410-24417A>C | ENSP00000341662.3:n.410-24417A>C | |
| NM_001004320.1:c.410-24417A>C | NP_001004320.1:n.410-24417A>C | |
| XM_006715730.1:c.410-24417A>C | XP_006715793.1:n.410-24417A>C | |
| XM_006715731.2:c.410-24417A>C | XP_006715794.1:n.410-24417A>C | |
| XM_011515402.1:c.410-24417A>C | XP_011513704.1:n.410-24417A>C | |
| XM_011515403.1:c.410-24417A>C | XP_011513705.1:n.410-24417A>C | |
| XM_006715731.3:c.410-24417A>C | XP_006715794.1:n.410-24417A>C | |
| XM_011515402.3:c.410-24417A>C | XP_011513704.1:n.410-24417A>C | |
| XM_017012204.1:c.410-24417A>C | XP_016867693.1:n.410-24417A>C | |
| XR_001744759.1:n.580-24417A>C | ||
| NM_001004320.2:c.410-24417A>C MANE Select | NP_001004320.1:n.410-24417A>C |