Linked Data
ClinVar Variation Id:
629315
dbSNP Id:
rs1559425247
gnomAD v3:
2-214781160-C-G
gnomAD v4:
2-214781160-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781160C>G , CM000664.2:g.214781160C>G | GRCh38 |
| NC_000002.11:g.215645884C>G , CM000664.1:g.215645884C>G | GRCh37 |
| NC_000002.10:g.215354129C>G | NCBI36 |
| NG_012047.2:g.33545G>C | |
| NG_012047.3:g.33552G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.714G>C MANE Select | ENSP00000260947.4:p.Lys238Asn | |
| ENST00000421162.2:c.215+15901G>C | ENSP00000392245.2:n.215+15901G>C | |
| ENST00000613192.2:c.158+28252G>C | ENSP00000483275.2:n.158+28252G>C | |
| ENST00000613374.5:c.158+28252G>C | ENSP00000484464.1:n.158+28252G>C | |
| ENST00000613706.5:c.714G>C | ENSP00000484976.2:p.Lys238Asn | |
| ENST00000617164.5:c.657G>C | ENSP00000480470.1:p.Lys219Asn | |
| ENST00000619009.5:c.364+11137G>C | ENSP00000482293.1:n.364+11137G>C | |
| ENST00000650978.1:c.556G>C | ||
| ENST00000260947.8:c.714G>C | ENSP00000260947.4:p.Lys238Asn | |
| ENST00000421162.1:c.215+15901G>C | ENSP00000392245.1:n.215+15901G>C | |
| ENST00000455743.5:c.*334G>C | ENSP00000412186.1:n.*334G>C | |
| ENST00000471787.1:n.609G>C | ||
| ENST00000613192.1:c.73+28252G>C | ENSP00000483275.1:n.73+28252G>C | |
| ENST00000613374.4:c.158+28252G>C | ENSP00000484464.1:n.158+28252G>C | |
| ENST00000613706.4:c.215+15901G>C | ENSP00000484976.1:n.215+15901G>C | |
| ENST00000617164.4:c.657G>C | ENSP00000480470.1:p.Lys219Asn | |
| ENST00000619009.4:c.364+11137G>C | ENSP00000482293.1:n.364+11137G>C | |
| ENST00000620057.4:c.364+11137G>C | ENSP00000481988.1:n.364+11137G>C | |
| NM_000465.3:c.714G>C | NP_000456.2:p.Lys238Asn | |
| NM_001282543.1:c.657G>C | NP_001269472.1:p.Lys219Asn | |
| NM_001282545.1:c.215+15901G>C | NP_001269474.1:n.215+15901G>C | |
| NM_001282548.1:c.158+28252G>C | NP_001269477.1:n.158+28252G>C | |
| NM_001282549.1:c.364+11137G>C | NP_001269478.1:n.364+11137G>C | |
| NR_104212.1:n.707G>C | ||
| NR_104215.1:n.650G>C | ||
| NR_104216.1:n.506+11137G>C | ||
| XM_011511567.1:c.660G>C | XP_011509869.1:p.Lys220Asn | |
| XM_011511568.1:c.714G>C | XP_011509870.1:p.Lys238Asn | |
| XM_017004613.1:c.813G>C | XP_016860102.1:p.Lys271Asn | |
| XM_017004614.1:c.813G>C | XP_016860103.1:p.Lys271Asn | |
| XR_002959322.1:n.904G>C | ||
| NM_000465.4:c.714G>C MANE Select | NP_000456.2:p.Lys238Asn | |
| NM_001282543.2:c.657G>C | NP_001269472.1:p.Lys219Asn | |
| NM_001282545.2:c.215+15901G>C | NP_001269474.1:n.215+15901G>C | |
| NM_001282548.2:c.158+28252G>C | NP_001269477.1:n.158+28252G>C | |
| NM_001282549.2:c.364+11137G>C | NP_001269478.1:n.364+11137G>C | |
| NR_104212.2:n.679G>C | ||
| NR_104215.2:n.622G>C | ||
| NR_104216.2:n.478+11137G>C |