Linked Data
dbSNP Id:
rs11245052
gnomAD v2:
10-128267640-T-A
gnomAD v3:
10-126579071-T-A
gnomAD v4:
10-126579071-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126579071T>A , CM000672.2:g.126579071T>A | GRCh38 |
| NC_000010.10:g.128267640T>A , CM000672.1:g.128267640T>A | GRCh37 |
| NC_000010.9:g.128257630T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488181.3:c.314-65132A>T MANE Select | ENSP00000474558.3:n.314-65132A>T | |
| ENST00000488181.2:c.191-65132A>T | ENSP00000474558.2:n.191-65132A>T | |
| ENST00000657225.1:n.231-65132A>T | ||
| ENST00000488181.1:c.-119-65132A>T | ENSP00000474558.1:n.-119-65132A>T | |
| XM_011539216.1:c.314-65132A>T | XP_011537518.1:n.314-65132A>T | |
| XM_011539219.1:c.-119-65132A>T | XP_011537521.1:n.-119-65132A>T | |
| XM_011539221.1:c.-119-65132A>T | XP_011537523.1:n.-119-65132A>T | |
| XM_011539228.1:c.-119-65132A>T | XP_011537530.1:n.-119-65132A>T | |
| XR_945591.1:n.872-65132A>T | ||
| NM_001350921.1:c.314-65132A>T | NP_001337850.1:n.314-65132A>T | |
| NM_001350922.1:c.314-65132A>T | NP_001337851.1:n.314-65132A>T | |
| NM_001350923.1:c.314-65132A>T | NP_001337852.1:n.314-65132A>T | |
| NR_146939.1:n.344-65132A>T | ||
| XR_002956946.1:n.344-65132A>T | ||
| XR_002956950.1:n.344-65132A>T | ||
| NM_001350921.2:c.314-65132A>T MANE Select | NP_001337850.1:n.314-65132A>T | |
| NM_001350922.2:c.314-65132A>T | NP_001337851.1:n.314-65132A>T | |
| NM_001350923.2:c.314-65132A>T | NP_001337852.1:n.314-65132A>T | |
| NR_146939.2:n.527-65132A>T |