Linked Data
dbSNP Id:
rs17207494
gnomAD v2:
2-113864010-A-C
gnomAD v3:
2-113106433-A-C
gnomAD v4:
2-113106433-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113106433A>C , CM000664.2:g.113106433A>C | GRCh38 |
| NC_000002.11:g.113864010A>C , CM000664.1:g.113864010A>C | GRCh37 |
| NC_000002.10:g.113580481A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409052.6:c.-471-4683A>C | ENSP00000387210.1:n.-471-4683A>C | |
| ENST00000463073.6:n.104-4683A>C | ||
| ENST00000465812.6:n.276-781A>C | ||
| XM_011511121.1:c.-471-4683A>C | XP_011509423.1:n.-471-4683A>C |