Linked Data
dbSNP Id:
rs2587949
gnomAD v2:
3-4223616-C-G
gnomAD v3:
3-4181932-C-G
gnomAD v4:
3-4181932-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4181932C>G , CM000665.2:g.4181932C>G | GRCh38 |
| NC_000003.11:g.4223616C>G , CM000665.1:g.4223616C>G | GRCh37 |
| NC_000003.10:g.4198616C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448413.5:c.1015-113187G>C | ENSP00000404384.1:n.1015-113187G>C | |
| XM_011533623.1:c.1015-113187G>C | XP_011531925.1:n.1015-113187G>C | |
| XM_011533624.1:c.1015-113187G>C | XP_011531926.1:n.1015-113187G>C | |
| XR_940549.1:n.106-17987G>C | ||
| XM_011533624.3:c.1015-113187G>C | XP_011531926.1:n.1015-113187G>C | |
| XM_017006252.2:c.955-113187G>C | XP_016861741.1:n.955-113187G>C | |
| XM_017006253.1:c.940-113187G>C | XP_016861742.1:n.940-113187G>C | |
| XM_017006254.2:c.1015-113187G>C | XP_016861743.1:n.1015-113187G>C |