Linked Data
ClinVar Variation Id:
343324
ClinVar RCV Id:
RCV000381408
dbSNP Id:
rs200665127
ExAC:
3:130674973 G / A
gnomAD v2:
3-130674973-G-A
gnomAD v3:
3-130956129-G-A
gnomAD v4:
3-130956129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.130956129G>A , CM000665.2:g.130956129G>A | GRCh38 |
| NC_000003.11:g.130674973G>A , CM000665.1:g.130674973G>A | GRCh37 |
| NC_000003.10:g.132157663G>A | NCBI36 |
| NG_007379.1:g.66540G>A | |
| NG_007379.2:g.110605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510168.6:c.782G>A MANE Select | ENSP00000427461.1:p.Ser261Asn | |
| ENST00000328560.12:c.782G>A | ENSP00000329664.8:p.Ser261Asn | |
| ENST00000359644.7:c.782G>A | ENSP00000352665.3:p.Ser261Asn | |
| ENST00000422190.6:c.782G>A | ENSP00000402677.2:p.Ser261Asn | |
| ENST00000428331.6:c.782G>A | ENSP00000395809.2:p.Ser261Asn | |
| ENST00000504381.5:c.767G>A | ENSP00000425320.2:p.Ser256Asn | |
| ENST00000504612.5:c.643G>A | ||
| ENST00000504948.5:c.734G>A | ENSP00000423330.1:p.Ser245Asn | |
| ENST00000505330.5:c.884G>A | ENSP00000423774.2:p.Ser295Asn | |
| ENST00000507488.6:c.884G>A | ENSP00000421326.3:p.Ser295Asn | |
| ENST00000508532.5:c.782G>A | ENSP00000424783.1:p.Ser261Asn | |
| ENST00000510168.5:c.782G>A | ENSP00000427461.1:p.Ser261Asn | |
| ENST00000513636.1:n.233G>A | ||
| ENST00000513801.5:c.734G>A | ENSP00000422872.1:p.Ser245Asn | |
| ENST00000515854.5:c.-2G>A | ENSP00000422890.1:n.-2G>A | |
| ENST00000533801.6:c.782G>A | ENSP00000432956.3:p.Ser261Asn | |
| NM_001001485.2:c.782G>A | NP_001001485.1:p.Ser261Asn | |
| NM_001001486.1:c.782G>A | NP_001001486.1:p.Ser261Asn | |
| NM_001001487.1:c.782G>A | NP_001001487.1:p.Ser261Asn | |
| NM_001199179.1:c.782G>A | NP_001186108.1:p.Ser261Asn | |
| NM_001199180.1:c.884G>A | NP_001186109.1:p.Ser295Asn | |
| NM_001199181.1:c.884G>A | NP_001186110.1:p.Ser295Asn | |
| NM_001199182.1:c.767G>A | NP_001186111.1:p.Ser256Asn | |
| NM_001199183.1:c.734G>A | NP_001186112.1:p.Ser245Asn | |
| NM_001199184.1:c.734G>A | NP_001186113.1:p.Ser245Asn | |
| NM_001199185.1:c.782G>A | NP_001186114.1:p.Ser261Asn | |
| NM_014382.3:c.782G>A | NP_055197.2:p.Ser261Asn | |
| XM_005247354.1:c.884G>A | XP_005247411.1:p.Ser295Asn | |
| XM_005247355.1:c.782G>A | XP_005247412.1:p.Ser261Asn | |
| XM_005247356.1:c.782G>A | XP_005247413.1:p.Ser261Asn | |
| XM_005247357.1:c.782G>A | XP_005247414.1:p.Ser261Asn | |
| XM_005247358.1:c.734G>A | XP_005247415.1:p.Ser245Asn | |
| XM_006713585.1:c.782G>A | XP_006713648.1:p.Ser261Asn | |
| XM_011512685.1:c.884G>A | XP_011510987.1:p.Ser295Asn | |
| XM_011512687.1:c.884G>A | XP_011510989.1:p.Ser295Asn | |
| XM_005247354.2:c.884G>A | XP_005247411.1:p.Ser295Asn | |
| XM_005247355.2:c.782G>A | XP_005247412.1:p.Ser261Asn | |
| XM_005247356.3:c.782G>A | XP_005247413.1:p.Ser261Asn | |
| XM_005247358.3:c.734G>A | XP_005247415.1:p.Ser245Asn | |
| XM_017006164.2:c.782G>A | XP_016861653.1:p.Ser261Asn | |
| NM_001199179.2:c.782G>A | NP_001186108.1:p.Ser261Asn | |
| NM_001199180.2:c.884G>A | NP_001186109.1:p.Ser295Asn | |
| NM_001199181.2:c.884G>A | NP_001186110.1:p.Ser295Asn | |
| NM_001199182.2:c.767G>A | NP_001186111.1:p.Ser256Asn | |
| NM_001199183.2:c.734G>A | NP_001186112.1:p.Ser245Asn | |
| NM_001199184.2:c.734G>A | NP_001186113.1:p.Ser245Asn | |
| NM_001199185.2:c.782G>A | NP_001186114.1:p.Ser261Asn | |
| NM_014382.4:c.782G>A | NP_055197.2:p.Ser261Asn | |
| NM_001001485.3:c.782G>A | NP_001001485.1:p.Ser261Asn | |
| NM_001001486.2:c.782G>A | NP_001001486.1:p.Ser261Asn | |
| NM_001001487.2:c.782G>A | NP_001001487.1:p.Ser261Asn | |
| NM_001199179.3:c.782G>A | NP_001186108.1:p.Ser261Asn | |
| NM_001199181.3:c.884G>A | NP_001186110.1:p.Ser295Asn | |
| NM_001199184.3:c.734G>A | NP_001186113.1:p.Ser245Asn | |
| NM_001378511.1:c.884G>A | NP_001365440.1:p.Ser295Asn | |
| NM_001378512.1:c.782G>A | NP_001365441.1:p.Ser261Asn | |
| NM_001378513.1:c.782G>A | NP_001365442.1:p.Ser261Asn | |
| NM_001378514.1:c.734G>A | NP_001365443.1:p.Ser245Asn | |
| NM_001378687.1:c.782G>A MANE Select | NP_001365616.1:p.Ser261Asn | |
| NM_014382.5:c.782G>A | NP_055197.2:p.Ser261Asn |