Linked Data
dbSNP Id:
rs751442752
ExAC:
19:18499465 T / C
gnomAD v2:
19-18499465-T-C
gnomAD v3:
19-18388655-T-C
gnomAD v4:
19-18388655-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388655T>C , CM000681.2:g.18388655T>C | GRCh38 |
| NC_000019.9:g.18499465T>C , CM000681.1:g.18499465T>C | GRCh37 |
| NC_000019.8:g.18360465T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.647T>C | ENSP00000470531.3:p.Val216Ala | |
| ENST00000597765.2:c.647T>C | ENSP00000469819.2:p.Val216Ala | |
| ENST00000252809.3:c.647T>C MANE Select | ENSP00000252809.3:p.Val216Ala | |
| NM_004864.2:c.647T>C | NP_004855.2:p.Val216Ala | |
| NM_004864.3:c.647T>C | NP_004855.2:p.Val216Ala | |
| XM_024451789.1:c.647T>C | XP_024307557.1:p.Val216Ala | |
| NM_004864.4:c.647T>C MANE Select | NP_004855.2:p.Val216Ala |