Linked Data
ClinVar Variation Id:
239154
dbSNP Id:
rs1110400
ExAC:
16:89986130 T / C
gnomAD v2:
16-89986130-T-C
gnomAD v3:
16-89919722-T-C
gnomAD v4:
16-89919722-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919722T>C , CM000678.2:g.89919722T>C | GRCh38 |
| NC_000016.9:g.89986130T>C , CM000678.1:g.89986130T>C | GRCh37 |
| NC_000016.8:g.88513631T>C | NCBI36 |
| NG_012026.1:g.6844T>C | |
| NG_027810.1:g.2714T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.464T>C MANE Select | ENSP00000451605.1:p.Ile155Thr | |
| ENST00000639847.1:c.464T>C | ENSP00000492011.1:p.Ile155Thr | |
| ENST00000555147.1:c.464T>C | ENSP00000451605.1:p.Ile155Thr | |
| ENST00000555427.1:c.464T>C | ENSP00000451760.1:p.Ile155Thr | |
| ENST00000556922.1:c.464T>C | ENSP00000451560.1:p.Ile155Thr | |
| NM_002386.3:c.464T>C | NP_002377.4:p.Ile155Thr | |
| NM_002386.4:c.464T>C MANE Select | NP_002377.4:p.Ile155Thr |