Linked Data
dbSNP Id:
rs11919783
gnomAD v2:
3-119746633-G-A
gnomAD v3:
3-120027786-G-A
gnomAD v4:
3-120027786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120027786G>A , CM000665.2:g.120027786G>A | GRCh38 |
| NC_000003.11:g.119746633G>A , CM000665.1:g.119746633G>A | GRCh37 |
| NC_000003.10:g.121229323G>A | NCBI36 |
| NG_012922.1:g.71632C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264235.13:c.89-25547C>T MANE Select | ENSP00000264235.9:n.89-25547C>T | |
| ENST00000316626.6:c.89-25547C>T | ENSP00000324806.5:n.89-25547C>T | |
| ENST00000650344.2:c.89-25547C>T | ENSP00000497956.2:n.89-25547C>T | |
| ENST00000677034.1:c.89-6160C>T | ENSP00000504055.1:n.89-6160C>T | |
| ENST00000677128.1:c.93-25550C>T | ENSP00000503177.1:n.93-25550C>T | |
| ENST00000677169.1:c.88+65561C>T | ENSP00000503107.1:n.88+65561C>T | |
| ENST00000677530.1:n.546-25547C>T | ||
| ENST00000677788.1:n.558-25547C>T | ||
| ENST00000678245.1:n.546-25547C>T | ||
| ENST00000678439.1:c.89-25547C>T | ENSP00000503868.1:n.89-25547C>T | |
| ENST00000679131.1:n.31-25547C>T | ||
| ENST00000264235.12:c.89-25547C>T | ENSP00000264235.8:n.89-25547C>T | |
| ENST00000316626.5:c.89-25547C>T | ENSP00000324806.5:n.89-25547C>T | |
| NM_001146156.1:c.89-25547C>T | NP_001139628.1:n.89-25547C>T | |
| NM_002093.3:c.89-25547C>T | NP_002084.2:n.89-25547C>T | |
| XM_006713610.1:c.89-25547C>T | XP_006713673.1:n.89-25547C>T | |
| XM_006713611.1:c.89-25547C>T | XP_006713674.1:n.89-25547C>T | |
| NM_001354596.1:c.89-25547C>T | NP_001341525.1:n.89-25547C>T | |
| XM_006713610.3:c.89-25547C>T | XP_006713673.1:n.89-25547C>T | |
| XR_002959518.1:n.2478-25547C>T | ||
| NM_001146156.2:c.89-25547C>T MANE Select | NP_001139628.1:n.89-25547C>T | |
| NM_001354596.2:c.89-25547C>T | NP_001341525.1:n.89-25547C>T | |
| NM_002093.4:c.89-25547C>T | NP_002084.2:n.89-25547C>T |