Linked Data
ClinVar Variation Id:
534266
dbSNP Id:
rs754738945
ExAC:
9:34637230 G / A
gnomAD v2:
9-34637230-G-A
gnomAD v3:
9-34637233-G-A
gnomAD v4:
9-34637233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34637233G>A , CM000671.2:g.34637233G>A | GRCh38 |
| NC_000009.11:g.34637230G>A , CM000671.1:g.34637230G>A | GRCh37 |
| NC_000009.10:g.34627230G>A | NCBI36 |
| NG_029945.2:g.5539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277010.9:c.339C>T MANE Select | ENSP00000277010.4:p.Ser113= | |
| ENST00000497006.2:n.486C>T | ||
| ENST00000679597.1:c.279C>T | ENSP00000505634.1:p.Ser93= | |
| ENST00000680104.1:c.339C>T | ENSP00000505949.1:p.Ser113= | |
| ENST00000680244.1:c.339C>T | ENSP00000505305.1:p.Ser113= | |
| ENST00000680277.1:c.339C>T | ENSP00000505742.1:p.Ser113= | |
| ENST00000680730.1:c.305+34C>T | ENSP00000505588.1:n.305+34C>T | |
| ENST00000681409.1:n.458C>T | ||
| ENST00000277010.8:c.339C>T | ENSP00000277010.4:p.Ser113= | |
| ENST00000353468.4:c.305+34C>T | ENSP00000434453.1:n.305+34C>T | |
| ENST00000378892.5:c.72C>T | ENSP00000368170.1:p.Ser24= | |
| ENST00000461426.1:n.564C>T | ||
| ENST00000477726.1:c.339C>T | ENSP00000420022.1:p.Ser113= | |
| ENST00000478146.1:n.146+34C>T | ||
| ENST00000497006.1:n.325C>T | ||
| NM_001282205.1:c.339C>T | NP_001269134.1:p.Ser113= | |
| NM_001282206.1:c.52+34C>T | NP_001269135.1:n.52+34C>T | |
| NM_001282207.1:c.279C>T | NP_001269136.1:p.Ser93= | |
| NM_001282208.1:c.339C>T | NP_001269137.1:p.Ser113= | |
| NM_001282209.1:c.305+34C>T | NP_001269138.1:n.305+34C>T | |
| NM_005866.3:c.339C>T | NP_005857.1:p.Ser113= | |
| NM_147157.2:c.339C>T | NP_671513.1:p.Ser113= | |
| NR_104108.1:n.368+100C>T | ||
| XM_011517674.1:c.305+34C>T | XP_011515976.1:n.305+34C>T | |
| NM_005866.4:c.339C>T MANE Select | NP_005857.1:p.Ser113= | |
| NM_001282205.2:c.339C>T | NP_001269134.1:p.Ser113= | |
| NM_001282206.2:c.52+34C>T | NP_001269135.1:n.52+34C>T | |
| NM_001282207.2:c.279C>T | NP_001269136.1:p.Ser93= | |
| NM_001282208.2:c.339C>T | NP_001269137.1:p.Ser113= | |
| NM_001282209.2:c.305+34C>T | NP_001269138.1:n.305+34C>T | |
| NM_147157.3:c.339C>T | NP_671513.1:p.Ser113= | |
| NR_104108.2:n.329+100C>T |