Linked Data
dbSNP Id:
rs748165211
ExAC:
10:96740964 G / A
gnomAD v2:
10-96740964-G-A
gnomAD v3:
10-94981207-G-A
gnomAD v4:
10-94981207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981207G>A , CM000672.2:g.94981207G>A | GRCh38 |
| NC_000010.10:g.96740964G>A , CM000672.1:g.96740964G>A | GRCh37 |
| NC_000010.9:g.96730954G>A | NCBI36 |
| NG_008385.1:g.47550G>A | |
| NG_008385.2:g.48050G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.986G>A MANE Select | ENSP00000260682.6:p.Arg329His | |
| ENST00000643112.1:c.844G>A | ENSP00000496202.1:p.Val282Met | |
| ENST00000260682.6:c.986G>A | ENSP00000260682.6:p.Arg329His | |
| NM_000771.3:c.986G>A | NP_000762.2:p.Arg329His | |
| NM_000771.4:c.986G>A MANE Select | NP_000762.2:p.Arg329His |