Linked Data
ClinVar Variation Id:
2065087
dbSNP Id:
rs1455536725
gnomAD v2:
17-40688549-G-T
gnomAD v3:
17-42536531-G-T
gnomAD v4:
17-42536531-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536531G>T , CM000679.2:g.42536531G>T | GRCh38 |
| NC_000017.10:g.40688549G>T , CM000679.1:g.40688549G>T | GRCh37 |
| NC_000017.9:g.37942075G>T | NCBI36 |
| NG_011552.1:g.5599G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.259G>T MANE Select | ENSP00000225927.1:p.Ala87Ser | |
| ENST00000225927.6:c.259G>T | ENSP00000225927.1:p.Ala87Ser | |
| ENST00000586516.5:c.9G>T | ||
| ENST00000591587.1:c.2G>T | ENSP00000467836.1:p.Arg1Leu | |
| NM_000263.3:c.259G>T | NP_000254.2:p.Ala87Ser | |
| XM_024450771.1:c.259G>T | XP_024306539.1:p.Ala87Ser | |
| NM_000263.4:c.259G>T MANE Select | NP_000254.2:p.Ala87Ser |