Linked Data
dbSNP Id:
rs2039006136
gnomAD v3:
10-99845695-T-A
gnomAD v4:
10-99845695-T-A
MyVariant Identifiers:
chr10:g.101605452T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845695T>A , CM000672.2:g.99845695T>A | GRCh38 |
| NC_000010.10:g.101605452T>A , CM000672.1:g.101605452T>A | GRCh37 |
| NC_000010.9:g.101595442T>A | NCBI36 |
| NG_011798.1:g.67990T>A | |
| NG_011798.2:g.68098T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4059T>A MANE Select | ENSP00000497274.1:p.Ala1353= | |
| ENST00000649459.1:n.407T>A | ||
| ENST00000370449.8:c.4059T>A | ENSP00000359478.4:p.Ala1353= | |
| NM_000392.4:c.4059T>A | NP_000383.1:p.Ala1353= | |
| XM_006717630.2:c.3363T>A | XP_006717693.1:p.Ala1121= | |
| XR_945604.1:n.4189T>A | ||
| XR_945605.1:n.4123T>A | ||
| NM_000392.5:c.4059T>A MANE Select | NP_000383.2:p.Ala1353= | |
| XM_006717630.3:c.3363T>A | XP_006717693.1:p.Ala1121= | |
| XR_945604.3:n.4243T>A | ||
| XR_945605.3:n.4175T>A |