Linked Data
dbSNP Id:
rs202121934
ExAC:
8:37823600 C / T
gnomAD v2:
8-37823600-C-T
gnomAD v4:
8-37966082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966082C>T , CM000670.2:g.37966082C>T | GRCh38 |
| NC_000008.10:g.37823600C>T , CM000670.1:g.37823600C>T | GRCh37 |
| NC_000008.9:g.37942757C>T | NCBI36 |
| NG_011936.1:g.5585G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.388G>A MANE Select | ENSP00000343782.3:p.Ala130Thr | |
| ENST00000520341.2:n.516G>A | ||
| ENST00000345060.4:c.388G>A | ENSP00000343782.3:p.Ala130Thr | |
| ENST00000614635.1:c.388G>A | ENSP00000480325.1:p.Ala130Thr | |
| NM_000025.2:c.388G>A | NP_000016.1:p.Ala130Thr | |
| NM_000025.3:c.388G>A MANE Select | NP_000016.1:p.Ala130Thr |