Linked Data
ClinVar Variation Id:
380100
dbSNP Id:
rs34251123
ExAC:
10:120914628 C / T
gnomAD v2:
10-120914628-C-T
gnomAD v3:
10-119155116-C-T
gnomAD v4:
10-119155116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119155116C>T , CM000672.2:g.119155116C>T | GRCh38 |
| NC_000010.10:g.120914628C>T , CM000672.1:g.120914628C>T | GRCh37 |
| NC_000010.9:g.120904618C>T | NCBI36 |
| NG_033895.1:g.15577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355697.7:c.678G>A MANE Select | ENSP00000347924.2:p.Ala226= | |
| ENST00000355697.6:c.678G>A | ENSP00000347924.2:p.Ala226= | |
| ENST00000369131.8:c.330G>A | ENSP00000358127.4:p.Ala110= | |
| ENST00000461438.5:n.707G>A | ||
| ENST00000466218.5:n.627G>A | ||
| ENST00000484960.5:n.8G>A | ||
| ENST00000490417.6:n.141G>A | ||
| NM_213649.1:c.678G>A | NP_998814.1:p.Ala226= | |
| NR_110305.1:n.696G>A | ||
| XM_005269525.3:c.651G>A | XP_005269582.1:p.Ala217= | |
| XM_005269526.1:c.330G>A | XP_005269583.1:p.Ala110= | |
| XM_005269527.1:c.330G>A | XP_005269584.1:p.Ala110= | |
| XM_011539282.1:c.330G>A | XP_011537584.1:p.Ala110= | |
| XR_945603.1:n.740G>A | ||
| XM_005269525.5:c.651G>A | XP_005269582.1:p.Ala217= | |
| XM_005269526.2:c.330G>A | XP_005269583.1:p.Ala110= | |
| XM_011539282.2:c.330G>A | XP_011537584.1:p.Ala110= | |
| XM_024447793.1:c.330G>A | XP_024303561.1:p.Ala110= | |
| XR_001747022.1:n.929G>A | ||
| XR_001747023.1:n.823G>A | ||
| XR_945603.3:n.759G>A | ||
| NM_213649.2:c.678G>A MANE Select | NP_998814.1:p.Ala226= |