Linked Data
dbSNP Id:
rs748807865
ExAC:
8:10480462 G / T
gnomAD v2:
8-10480462-G-T
gnomAD v3:
8-10622952-G-T
gnomAD v4:
8-10622952-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622952G>T , CM000670.2:g.10622952G>T | GRCh38 |
| NC_000008.10:g.10480462G>T , CM000670.1:g.10480462G>T | GRCh37 |
| NC_000008.9:g.10517872G>T | NCBI36 |
| NG_028035.1:g.37156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.250C>A MANE Select | ENSP00000371923.3:p.Pro84Thr | |
| ENST00000329335.3:n.500C>A | ||
| ENST00000382483.3:c.250C>A | ENSP00000371923.3:p.Pro84Thr | |
| NM_178857.5:c.250C>A | NP_849188.4:p.Pro84Thr | |
| NM_178857.6:c.250C>A MANE Select | NP_849188.4:p.Pro84Thr |