Linked Data
ClinVar Variation Id:
2659431
ClinVar RCV Id:
RCV003430205
dbSNP Id:
rs147354564
ExAC:
9:114518688 G / A
gnomAD v2:
9-114518688-G-A
gnomAD v3:
9-111756408-G-A
gnomAD v4:
9-111756408-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.111756408G>A , CM000671.2:g.111756408G>A | GRCh38 |
| NC_000009.11:g.114518688G>A , CM000671.1:g.114518688G>A | GRCh37 |
| NC_000009.10:g.113558509G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682571.1:c.-119-8209C>T | ENSP00000507667.1:n.-119-8209C>T | |
| ENST00000682961.1:c.779C>T MANE Select | ENSP00000508388.1:p.Ser260Leu | |
| ENST00000683944.1:c.779C>T | ENSP00000507813.1:p.Ser260Leu | |
| ENST00000318737.8:c.587C>T | ENSP00000322108.4:p.Ser196Leu | |
| ENST00000374283.5:c.779C>T | ENSP00000363401.5:p.Ser260Leu | |
| ENST00000374287.7:c.587C>T | ENSP00000363405.3:p.Ser196Leu | |
| ENST00000394777.8:c.470C>T | ENSP00000378257.4:p.Ser157Leu | |
| ENST00000394779.7:c.470C>T | ENSP00000378259.3:p.Ser157Leu | |
| NM_001080551.2:c.470C>T | NP_001074020.2:p.Ser157Leu | |
| NM_173521.4:c.587C>T | NP_775792.4:p.Ser196Leu | |
| NR_109816.1:n.924C>T | ||
| XM_006716974.2:c.779C>T | XP_006717037.1:p.Ser260Leu | |
| XM_006716975.2:c.779C>T | XP_006717038.1:p.Ser260Leu | |
| XM_006716977.2:c.779C>T | XP_006717040.1:p.Ser260Leu | |
| XM_011518302.1:c.587C>T | XP_011516604.1:p.Ser196Leu | |
| XM_011518303.1:c.587C>T | XP_011516605.1:p.Ser196Leu | |
| XM_011518304.1:c.377C>T | XP_011516606.1:p.Ser126Leu | |
| XM_011518305.1:c.443-8209C>T | XP_011516607.1:n.443-8209C>T | |
| XM_011518306.1:c.212C>T | XP_011516608.1:p.Ser71Leu | |
| XM_011518307.1:c.251-8209C>T | XP_011516609.1:n.251-8209C>T | |
| XM_011518308.1:c.128C>T | XP_011516610.1:p.Ser43Leu | |
| XM_011518309.1:c.779C>T | XP_011516611.1:p.Ser260Leu | |
| XM_011518302.2:c.587C>T | XP_011516604.1:p.Ser196Leu | |
| XM_017014340.1:c.440C>T | XP_016869829.1:p.Ser147Leu | |
| XM_017014341.1:c.779C>T | XP_016869830.1:p.Ser260Leu | |
| NM_001080551.3:c.470C>T | NP_001074020.3:p.Ser157Leu | |
| NM_173521.5:c.587C>T | NP_775792.5:p.Ser196Leu | |
| NR_109816.2:n.853C>T | ||
| NM_001378211.1:c.779C>T MANE Select | NP_001365140.1:p.Ser260Leu | |
| NM_001378212.1:c.470C>T | NP_001365141.1:p.Ser157Leu |