Linked Data
dbSNP Id:
rs1846885916
gnomAD v3:
10-119147858-A-T
gnomAD v4:
10-119147858-A-T
MyVariant Identifiers:
chr10:g.120907370A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119147858A>T , CM000672.2:g.119147858A>T | GRCh38 |
| NC_000010.10:g.120907370A>T , CM000672.1:g.120907370A>T | GRCh37 |
| NC_000010.9:g.120897360A>T | NCBI36 |
| NG_033895.1:g.22835T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355697.7:c.735T>A MANE Select | ENSP00000347924.2:p.Ala245= | |
| ENST00000355697.6:c.735T>A | ENSP00000347924.2:p.Ala245= | |
| ENST00000369131.8:c.387T>A | ENSP00000358127.4:p.Ala129= | |
| ENST00000461438.5:n.764T>A | ||
| ENST00000466218.5:n.684T>A | ||
| ENST00000484960.5:n.65T>A | ||
| ENST00000490417.6:n.198T>A | ||
| NM_213649.1:c.735T>A | NP_998814.1:p.Ala245= | |
| NR_110305.1:n.753T>A | ||
| XM_005269525.3:c.708T>A | XP_005269582.1:p.Ala236= | |
| XM_005269526.1:c.387T>A | XP_005269583.1:p.Ala129= | |
| XM_005269527.1:c.387T>A | XP_005269584.1:p.Ala129= | |
| XM_011539282.1:c.387T>A | XP_011537584.1:p.Ala129= | |
| XR_945603.1:n.797T>A | ||
| XM_005269525.5:c.708T>A | XP_005269582.1:p.Ala236= | |
| XM_005269526.2:c.387T>A | XP_005269583.1:p.Ala129= | |
| XM_011539282.2:c.387T>A | XP_011537584.1:p.Ala129= | |
| XM_024447793.1:c.387T>A | XP_024303561.1:p.Ala129= | |
| XR_001747022.1:n.986T>A | ||
| XR_001747023.1:n.880T>A | ||
| XR_945603.3:n.816T>A | ||
| NM_213649.2:c.735T>A MANE Select | NP_998814.1:p.Ala245= |