Linked Data
ClinVar Variation Id:
349718
dbSNP Id:
rs373137263
ExAC:
4:79350274 G / A
gnomAD v2:
4-79350274-G-A
gnomAD v3:
4-78429120-G-A
gnomAD v4:
4-78429120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78429120G>A , CM000666.2:g.78429120G>A | GRCh38 |
| NC_000004.11:g.79350274G>A , CM000666.1:g.79350274G>A | GRCh37 |
| NC_000004.10:g.79569298G>A | NCBI36 |
| NG_015812.1:g.376551G>A | |
| NG_015812.2:g.376551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.4737G>A | ENSP00000326330.6:p.Pro1579= | |
| ENST00000682513.1:c.4737G>A | ENSP00000508201.1:p.Pro1579= | |
| ENST00000684159.1:c.4737G>A | ENSP00000506875.1:p.Pro1579= | |
| ENST00000512123.4:c.4737G>A MANE Select | ENSP00000422834.2:p.Pro1579= | |
| ENST00000264899.10:c.845-14983G>A | ENSP00000264899.7:n.845-14983G>A | |
| ENST00000325942.10:c.4737G>A | ENSP00000326330.6:p.Pro1579= | |
| ENST00000510944.3:c.85G>A | ||
| ENST00000512123.3:c.4737G>A | ENSP00000422834.2:p.Pro1579= | |
| NM_001166133.1:c.4737G>A | NP_001159605.1:p.Pro1579= | |
| NM_025074.6:c.4737G>A | NP_079350.5:p.Pro1579= | |
| XM_006714314.1:c.4731G>A | XP_006714377.1:p.Pro1577= | |
| XM_006714316.1:c.4737G>A | XP_006714379.1:p.Pro1579= | |
| XM_011532270.1:c.2436G>A | XP_011530572.1:p.Pro812= | |
| XM_006714316.3:c.4737G>A | XP_006714379.1:p.Pro1579= | |
| NM_025074.7:c.4737G>A MANE Select | NP_079350.5:p.Pro1579= | |
| NM_001166133.2:c.4737G>A | NP_001159605.1:p.Pro1579= |