Linked Data
ClinVar Variation Id:
141384
dbSNP Id:
rs587781707
ExAC:
2:215617196 G / C
gnomAD v2:
2-215617196-G-C
gnomAD v3:
2-214752472-G-C
gnomAD v4:
2-214752472-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752472G>C , CM000664.2:g.214752472G>C | GRCh38 |
| NC_000002.11:g.215617196G>C , CM000664.1:g.215617196G>C | GRCh37 |
| NC_000002.10:g.215325441G>C | NCBI36 |
| NG_012047.2:g.62233C>G | |
| NG_012047.3:g.62240C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1652C>G MANE Select | ENSP00000260947.4:p.Ser551Ter | |
| ENST00000421162.2:c.299C>G | ENSP00000392245.2:p.Ser100Ter | |
| ENST00000613192.2:c.159-21964C>G | ENSP00000483275.2:n.159-21964C>G | |
| ENST00000613374.5:c.242C>G | ENSP00000484464.1:p.Ser81Ter | |
| ENST00000613706.5:c.1244C>G | ENSP00000484976.2:p.Ser415Ter | |
| ENST00000617164.5:c.1595C>G | ENSP00000480470.1:p.Ser532Ter | |
| ENST00000619009.5:c.365-21964C>G | ENSP00000482293.1:n.365-21964C>G | |
| ENST00000650978.1:c.3027C>G | ||
| ENST00000260947.8:c.1652C>G | ENSP00000260947.4:p.Ser551Ter | |
| ENST00000421162.1:c.299C>G | ENSP00000392245.1:p.Ser100Ter | |
| ENST00000455743.5:c.*1272C>G | ENSP00000412186.1:n.*1272C>G | |
| ENST00000465841.1:n.7C>G | ||
| ENST00000613192.1:c.74-21964C>G | ENSP00000483275.1:n.74-21964C>G | |
| ENST00000613374.4:c.242C>G | ENSP00000484464.1:p.Ser81Ter | |
| ENST00000613706.4:c.299C>G | ENSP00000484976.1:p.Ser100Ter | |
| ENST00000617164.4:c.1595C>G | ENSP00000480470.1:p.Ser532Ter | |
| ENST00000619009.4:c.365-21964C>G | ENSP00000482293.1:n.365-21964C>G | |
| ENST00000620057.4:c.*318C>G | ENSP00000481988.1:n.*318C>G | |
| NM_000465.3:c.1652C>G | NP_000456.2:p.Ser551Ter | |
| NM_001282543.1:c.1595C>G | NP_001269472.1:p.Ser532Ter | |
| NM_001282545.1:c.299C>G | NP_001269474.1:p.Ser100Ter | |
| NM_001282548.1:c.242C>G | NP_001269477.1:p.Ser81Ter | |
| NM_001282549.1:c.365-21964C>G | NP_001269478.1:n.365-21964C>G | |
| NR_104212.1:n.1645C>G | ||
| NR_104215.1:n.1588C>G | ||
| NR_104216.1:n.844C>G | ||
| XM_011511567.1:c.1598C>G | XP_011509869.1:p.Ser533Ter | |
| XM_011511568.1:c.1652C>G | XP_011509870.1:p.Ser551Ter | |
| XM_017004613.1:c.1751C>G | XP_016860102.1:p.Ser584Ter | |
| XM_017004614.1:c.1751C>G | XP_016860103.1:p.Ser584Ter | |
| XR_002959322.1:n.1842C>G | ||
| NM_000465.4:c.1652C>G MANE Select | NP_000456.2:p.Ser551Ter | |
| NM_001282543.2:c.1595C>G | NP_001269472.1:p.Ser532Ter | |
| NM_001282545.2:c.299C>G | NP_001269474.1:p.Ser100Ter | |
| NM_001282548.2:c.242C>G | NP_001269477.1:p.Ser81Ter | |
| NM_001282549.2:c.365-21964C>G | NP_001269478.1:n.365-21964C>G | |
| NR_104212.2:n.1617C>G | ||
| NR_104215.2:n.1560C>G | ||
| NR_104216.2:n.816C>G |