Linked Data
dbSNP Id:
rs61159171
gnomAD v2:
7-111642646-C-T
gnomAD v3:
7-112002591-C-T
gnomAD v4:
7-112002591-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.112002591C>T , CM000669.2:g.112002591C>T | GRCh38 |
| NC_000007.13:g.111642646C>T , CM000669.1:g.111642646C>T | GRCh37 |
| NC_000007.12:g.111429882C>T | NCBI36 |
| NG_028060.1:g.208817G>A | |
| NG_028060.2:g.208821G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428084.6:c.121+1457G>A MANE Select | ENSP00000410746.1:n.121+1457G>A | |
| ENST00000437633.6:c.121+1457G>A | ENSP00000404179.1:n.121+1457G>A | |
| ENST00000494651.7:c.85+1457G>A | ENSP00000440944.3:n.85+1457G>A | |
| ENST00000661654.1:n.390+1457G>A | ||
| ENST00000428084.5:c.121+1457G>A | ENSP00000410746.1:n.121+1457G>A | |
| ENST00000437633.5:c.121+1457G>A | ENSP00000404179.1:n.121+1457G>A | |
| ENST00000445943.5:c.84+1457G>A | ||
| ENST00000468571.1:n.85+1457G>A | ||
| ENST00000476846.5:n.377+1457G>A | ||
| ENST00000494651.6:c.85+1457G>A | ENSP00000440944.2:n.85+1457G>A | |
| NM_014705.3:c.121+1457G>A | NP_055520.3:n.121+1457G>A | |
| XM_006716188.1:c.121+1457G>A | XP_006716251.1:n.121+1457G>A | |
| XM_006716189.1:c.121+1457G>A | XP_006716252.1:n.121+1457G>A | |
| XM_011516716.1:c.121+1457G>A | XP_011515018.1:n.121+1457G>A | |
| XM_011516717.1:c.121+1457G>A | XP_011515019.1:n.121+1457G>A | |
| NM_001363540.1:c.121+1457G>A | NP_001350469.1:n.121+1457G>A | |
| XM_006716189.2:c.121+1457G>A | XP_006716252.1:n.121+1457G>A | |
| XM_017012819.1:c.214+1457G>A | XP_016868308.1:n.214+1457G>A | |
| XM_017012820.1:c.214+1457G>A | XP_016868309.1:n.214+1457G>A | |
| XM_017012821.1:c.214+1457G>A | XP_016868310.1:n.214+1457G>A | |
| XM_017012822.1:c.154+1457G>A | XP_016868311.1:n.154+1457G>A | |
| XM_017012823.1:c.214+1457G>A | XP_016868312.1:n.214+1457G>A | |
| XM_017012824.1:c.214+1457G>A | XP_016868313.1:n.214+1457G>A | |
| XM_017012825.1:c.214+1457G>A | XP_016868314.1:n.214+1457G>A | |
| XM_024447006.1:c.-108+1457G>A | XP_024302774.1:n.-108+1457G>A | |
| NM_014705.4:c.121+1457G>A | NP_055520.3:n.121+1457G>A | |
| NM_001363540.2:c.121+1457G>A MANE Select | NP_001350469.1:n.121+1457G>A |