Linked Data
dbSNP Id:
rs147997504
gnomAD v2:
2-220037693-G-T
gnomAD v3:
2-219172971-G-T
gnomAD v4:
2-219172971-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219172971G>T , CM000664.2:g.219172971G>T | GRCh38 |
| NC_000002.11:g.220037693G>T , CM000664.1:g.220037693G>T | GRCh37 |
| NC_000002.10:g.219745937G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360507.10:c.848C>A MANE Select | ENSP00000353698.5:p.Pro283His | |
| ENST00000360507.9:c.848C>A | ENSP00000353698.5:p.Pro283His | |
| ENST00000409789.5:c.848C>A | ENSP00000386277.1:p.Pro283His | |
| ENST00000453038.5:c.848C>A | ENSP00000410109.1:p.Pro283His | |
| NM_015680.4:c.848C>A | NP_056495.3:p.Pro283His | |
| XM_005246462.2:c.848C>A | XP_005246519.1:p.Pro283His | |
| XM_005246463.3:c.848C>A | XP_005246520.1:p.Pro283His | |
| XM_006712419.1:c.848C>A | XP_006712482.1:p.Pro283His | |
| NM_001321389.1:c.848C>A | NP_001308318.1:p.Pro283His | |
| NM_001321390.1:c.848C>A | NP_001308319.1:p.Pro283His | |
| NM_001321391.1:c.848C>A | NP_001308320.1:p.Pro283His | |
| NM_015680.5:c.848C>A | NP_056495.3:p.Pro283His | |
| NR_135628.1:n.893C>A | ||
| NR_135629.1:n.951C>A | ||
| XM_024452790.1:c.878C>A | XP_024308558.1:p.Pro293His | |
| NM_015680.6:c.848C>A MANE Select | NP_056495.4:p.Pro283His | |
| NM_001321390.2:c.848C>A | NP_001308319.2:p.Pro283His | |
| NM_001321391.2:c.848C>A | NP_001308320.2:p.Pro283His | |
| NR_135628.2:n.876C>A | ||
| NR_135629.2:n.883C>A | ||
| NM_001321389.2:c.848C>A | NP_001308318.2:p.Pro283His |