Linked Data
dbSNP Id:
rs17054392
gnomAD v2:
4-169530258-T-C
gnomAD v3:
4-168609107-T-C
gnomAD v4:
4-168609107-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168609107T>C , CM000666.2:g.168609107T>C | GRCh38 |
| NC_000004.11:g.169530258T>C , CM000666.1:g.169530258T>C | GRCh37 |
| NC_000004.10:g.169766833T>C | NCBI36 |
| NG_013376.1:g.117042T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505667.6:c.909-59083T>C MANE Select | ENSP00000425556.1:n.909-59083T>C | |
| ENST00000261509.10:c.909-59083T>C | ENSP00000261509.6:n.909-59083T>C | |
| ENST00000505667.5:c.909-59083T>C | ENSP00000425556.1:n.909-59083T>C | |
| ENST00000508898.5:c.846-59083T>C | ENSP00000423063.1:n.846-59083T>C | |
| NM_001166108.1:c.909-59083T>C | NP_001159580.1:n.909-59083T>C | |
| NM_016081.3:c.909-59083T>C | NP_057165.3:n.909-59083T>C | |
| XM_005262861.3:c.909-59083T>C | XP_005262918.1:n.909-59083T>C | |
| XM_011531768.1:c.1113-59083T>C | XP_011530070.1:n.1113-59083T>C | |
| XM_011531769.1:c.1113-59083T>C | XP_011530071.1:n.1113-59083T>C | |
| XM_011531770.1:c.1113-59083T>C | XP_011530072.1:n.1113-59083T>C | |
| XM_011531771.1:c.1113-59083T>C | XP_011530073.1:n.1113-59083T>C | |
| XM_011531772.1:c.1113-59083T>C | XP_011530074.1:n.1113-59083T>C | |
| XM_011531773.1:c.1113-59083T>C | XP_011530075.1:n.1113-59083T>C | |
| XM_011531774.1:c.1113-59083T>C | XP_011530076.1:n.1113-59083T>C | |
| XM_005262861.4:c.909-59083T>C | XP_005262918.1:n.909-59083T>C | |
| XM_011531768.2:c.1113-59083T>C | XP_011530070.1:n.1113-59083T>C | |
| XM_011531769.2:c.1113-59083T>C | XP_011530071.1:n.1113-59083T>C | |
| XM_011531770.2:c.1113-59083T>C | XP_011530072.1:n.1113-59083T>C | |
| XM_011531771.2:c.1113-59083T>C | XP_011530073.1:n.1113-59083T>C | |
| XM_011531772.2:c.1113-59083T>C | XP_011530074.1:n.1113-59083T>C | |
| XM_017007910.1:c.1113-59083T>C | XP_016863399.1:n.1113-59083T>C | |
| XM_017007911.1:c.1113-59083T>C | XP_016863400.1:n.1113-59083T>C | |
| NM_001166108.2:c.909-59083T>C MANE Select | NP_001159580.1:n.909-59083T>C | |
| NM_016081.4:c.909-59083T>C | NP_057165.3:n.909-59083T>C |