Linked Data
dbSNP Id:
rs780367087
ExAC:
2:219447728 C / A
gnomAD v2:
2-219447728-C-A
gnomAD v4:
2-218583005-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218583005C>A , CM000664.2:g.218583005C>A | GRCh38 |
| NC_000002.11:g.219447728C>A , CM000664.1:g.219447728C>A | GRCh37 |
| NC_000002.10:g.219155972C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273064.11:c.239C>A MANE Select | ENSP00000273064.6:p.Pro80His | |
| ENST00000273064.10:c.239C>A | ENSP00000273064.6:p.Pro80His | |
| ENST00000295701.9:c.239C>A | ENSP00000295701.5:p.Pro80His | |
| ENST00000432877.5:c.*131C>A | ENSP00000392394.1:n.*131C>A | |
| ENST00000542068.5:c.239C>A | ENSP00000443687.1:p.Pro80His | |
| ENST00000627282.2:c.239C>A | ENSP00000486540.1:p.Pro80His | |
| NM_001271634.1:c.239C>A | NP_001258563.1:p.Pro80His | |
| NM_001271635.1:c.239C>A | NP_001258564.1:p.Pro80His | |
| NM_005444.2:c.239C>A | NP_005435.1:p.Pro80His | |
| NR_073390.1:n.614C>A | ||
| XM_011512138.1:c.80C>A | XP_011510440.1:p.Pro27His | |
| XM_011512138.3:c.80C>A | XP_011510440.1:p.Pro27His | |
| XM_017005248.1:c.77C>A | XP_016860737.1:p.Pro26His | |
| XM_017005249.2:c.80C>A | XP_016860738.1:p.Pro27His | |
| NM_001271634.2:c.239C>A | NP_001258563.1:p.Pro80His | |
| NM_005444.3:c.239C>A MANE Select | NP_005435.1:p.Pro80His | |
| NR_073390.2:n.355C>A | ||
| NM_001271635.2:c.239C>A | NP_001258564.1:p.Pro80His |