Linked Data
dbSNP Id:
rs746479380
ExAC:
6:143806369 C / A
gnomAD v2:
6-143806369-C-A
gnomAD v4:
6-143485232-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485232C>A , CM000668.2:g.143485232C>A | GRCh38 |
| NC_000006.11:g.143806369C>A , CM000668.1:g.143806369C>A | GRCh37 |
| NC_000006.10:g.143848062C>A | NCBI36 |
| NG_008459.1:g.39452C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1022C>A MANE Select | ENSP00000356563.4:p.Pro341His | |
| ENST00000367591.4:c.1022C>A | ENSP00000356563.4:p.Pro341His | |
| ENST00000585848.1:n.161C>A | ||
| NM_003630.2:c.1022C>A | NP_003621.1:p.Pro341His | |
| NM_003630.3:c.1022C>A MANE Select | NP_003621.1:p.Pro341His |