Linked Data
dbSNP Id:
rs10428959
gnomAD v2:
7-111677906-C-T
gnomAD v3:
7-112037851-C-T
gnomAD v4:
7-112037851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.112037851C>T , CM000669.2:g.112037851C>T | GRCh38 |
| NC_000007.13:g.111677906C>T , CM000669.1:g.111677906C>T | GRCh37 |
| NC_000007.12:g.111465142C>T | NCBI36 |
| NG_028060.1:g.173557G>A | |
| NG_028060.2:g.173561G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428084.6:c.38-33720G>A MANE Select | ENSP00000410746.1:n.38-33720G>A | |
| ENST00000437633.6:c.38-33720G>A | ENSP00000404179.1:n.38-33720G>A | |
| ENST00000661654.1:n.307-33720G>A | ||
| ENST00000428084.5:c.38-33720G>A | ENSP00000410746.1:n.38-33720G>A | |
| ENST00000437633.5:c.38-33720G>A | ENSP00000404179.1:n.38-33720G>A | |
| ENST00000476846.5:n.294-33720G>A | ||
| NM_014705.3:c.38-33720G>A | NP_055520.3:n.38-33720G>A | |
| XM_006716188.1:c.38-33720G>A | XP_006716251.1:n.38-33720G>A | |
| XM_006716189.1:c.38-33720G>A | XP_006716252.1:n.38-33720G>A | |
| XM_011516716.1:c.38-33720G>A | XP_011515018.1:n.38-33720G>A | |
| XM_011516717.1:c.38-33720G>A | XP_011515019.1:n.38-33720G>A | |
| NM_001363540.1:c.38-33720G>A | NP_001350469.1:n.38-33720G>A | |
| XM_006716189.2:c.38-33720G>A | XP_006716252.1:n.38-33720G>A | |
| XM_017012819.1:c.131-33720G>A | XP_016868308.1:n.131-33720G>A | |
| XM_017012820.1:c.131-33720G>A | XP_016868309.1:n.131-33720G>A | |
| XM_017012821.1:c.131-33720G>A | XP_016868310.1:n.131-33720G>A | |
| XM_017012822.1:c.70+4413G>A | XP_016868311.1:n.70+4413G>A | |
| XM_017012823.1:c.131-33720G>A | XP_016868312.1:n.131-33720G>A | |
| XM_017012824.1:c.131-33720G>A | XP_016868313.1:n.131-33720G>A | |
| XM_017012825.1:c.131-33720G>A | XP_016868314.1:n.131-33720G>A | |
| XM_024447006.1:c.-191-33720G>A | XP_024302774.1:n.-191-33720G>A | |
| NM_014705.4:c.38-33720G>A | NP_055520.3:n.38-33720G>A | |
| NM_001363540.2:c.38-33720G>A MANE Select | NP_001350469.1:n.38-33720G>A |