Linked Data
dbSNP Id:
rs2142288985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435999T>C , CM000678.2:g.67435999T>C | GRCh38 |
| NC_000016.9:g.67469902T>C , CM000678.1:g.67469902T>C | GRCh37 |
| NC_000016.8:g.66027403T>C | NCBI36 |
| NG_016549.1:g.9867T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.521T>C MANE Select | ENSP00000316786.5:p.Val174Ala | |
| ENST00000326152.5:c.521T>C | ENSP00000316786.5:p.Val174Ala | |
| ENST00000566606.1:c.499T>C | ENSP00000473429.1:n.499T>C | |
| ENST00000567684.2:n.384T>C | ||
| NM_000196.3:c.521T>C | NP_000187.3:p.Val174Ala | |
| NM_000196.4:c.521T>C MANE Select | NP_000187.3:p.Val174Ala |