Linked Data
ClinVar Variation Id:
246205
dbSNP Id:
rs876658741
gnomAD v3:
2-214730452-G-A
gnomAD v4:
2-214730452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730452G>A , CM000664.2:g.214730452G>A | GRCh38 |
| NC_000002.11:g.215595176G>A , CM000664.1:g.215595176G>A | GRCh37 |
| NC_000002.10:g.215303421G>A | NCBI36 |
| NG_012047.2:g.84253C>T | |
| NG_012047.3:g.84260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1960C>T MANE Select | ENSP00000260947.4:p.Pro654Ser | |
| ENST00000421162.2:c.607C>T | ENSP00000392245.2:p.Pro203Ser | |
| ENST00000613192.2:c.*23C>T | ENSP00000483275.2:n.*23C>T | |
| ENST00000613374.5:c.550C>T | ENSP00000484464.1:p.Pro184Ser | |
| ENST00000613706.5:c.1552C>T | ENSP00000484976.2:p.Pro518Ser | |
| ENST00000617164.5:c.1903C>T | ENSP00000480470.1:p.Pro635Ser | |
| ENST00000619009.5:c.421C>T | ENSP00000482293.1:p.Pro141Ser | |
| ENST00000650978.1:c.3335C>T | ||
| ENST00000260947.8:c.1960C>T | ENSP00000260947.4:p.Pro654Ser | |
| ENST00000421162.1:c.607C>T | ENSP00000392245.1:p.Pro203Ser | |
| ENST00000432456.5:c.57C>T | ||
| ENST00000455743.5:c.*1580C>T | ENSP00000412186.1:n.*1580C>T | |
| ENST00000471590.5:n.295C>T | ||
| ENST00000613192.1:c.130C>T | ENSP00000483275.1:p.Pro44Ser | |
| ENST00000613374.4:c.550C>T | ENSP00000484464.1:p.Pro184Ser | |
| ENST00000613706.4:c.607C>T | ENSP00000484976.1:p.Pro203Ser | |
| ENST00000617164.4:c.1903C>T | ENSP00000480470.1:p.Pro635Ser | |
| ENST00000619009.4:c.421C>T | ENSP00000482293.1:p.Pro141Ser | |
| ENST00000620057.4:c.*626C>T | ENSP00000481988.1:n.*626C>T | |
| NM_000465.3:c.1960C>T | NP_000456.2:p.Pro654Ser | |
| NM_001282543.1:c.1903C>T | NP_001269472.1:p.Pro635Ser | |
| NM_001282545.1:c.607C>T | NP_001269474.1:p.Pro203Ser | |
| NM_001282548.1:c.550C>T | NP_001269477.1:p.Pro184Ser | |
| NM_001282549.1:c.421C>T | NP_001269478.1:p.Pro141Ser | |
| NR_104212.1:n.1953C>T | ||
| NR_104215.1:n.1896C>T | ||
| NR_104216.1:n.1152C>T | ||
| XM_011511567.1:c.1906C>T | XP_011509869.1:p.Pro636Ser | |
| XM_017004613.1:c.2059C>T | XP_016860102.1:p.Pro687Ser | |
| XR_002959322.1:n.2150C>T | ||
| NM_000465.4:c.1960C>T MANE Select | NP_000456.2:p.Pro654Ser | |
| NM_001282543.2:c.1903C>T | NP_001269472.1:p.Pro635Ser | |
| NM_001282545.2:c.607C>T | NP_001269474.1:p.Pro203Ser | |
| NM_001282548.2:c.550C>T | NP_001269477.1:p.Pro184Ser | |
| NM_001282549.2:c.421C>T | NP_001269478.1:p.Pro141Ser | |
| NR_104212.2:n.1925C>T | ||
| NR_104215.2:n.1868C>T | ||
| NR_104216.2:n.1124C>T |