Linked Data
dbSNP Id:
rs1012322609
gnomAD v2:
12-80878528-A-T
gnomAD v3:
12-80484749-A-T
gnomAD v4:
12-80484749-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80484749A>T , CM000674.2:g.80484749A>T | GRCh38 |
| NC_000012.11:g.80878528A>T , CM000674.1:g.80878528A>T | GRCh37 |
| NC_000012.10:g.79402659A>T | NCBI36 |
| NG_034052.1:g.45404A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.1359+144A>T MANE Select | ENSP00000495607.1:n.1359+144A>T | |
| ENST00000614701.4:c.1359+144A>T | ENSP00000482885.1:n.1359+144A>T | |
| ENST00000616559.4:c.1485+144A>T | ENSP00000483259.1:n.1485+144A>T | |
| NM_001145026.1:c.1359+144A>T | NP_001138498.1:n.1359+144A>T | |
| XM_011538290.1:c.1359+144A>T | XP_011536592.1:n.1359+144A>T | |
| XM_017019273.1:c.2025+144A>T | XP_016874762.1:n.2025+144A>T | |
| XM_017019274.1:c.2025+144A>T | XP_016874763.1:n.2025+144A>T | |
| XM_017019275.1:c.2025+144A>T | XP_016874764.1:n.2025+144A>T | |
| XR_001748688.1:n.2162+144A>T | ||
| XR_001748689.1:n.2162+144A>T | ||
| NM_001145026.2:c.1359+144A>T MANE Select | NP_001138498.1:n.1359+144A>T |