Linked Data
ClinVar Variation Id:
720865
ClinVar RCV Id:
RCV000894254
dbSNP Id:
rs150153853
ExAC:
5:76627230 G / A
gnomAD v2:
5-76627230-G-A
gnomAD v3:
5-77331405-G-A
gnomAD v4:
5-77331405-G-A
COSMIC:
COSM3617984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77331405G>A , CM000667.2:g.77331405G>A | GRCh38 |
| NC_000005.9:g.76627230G>A , CM000667.1:g.76627230G>A | GRCh37 |
| NC_000005.8:g.76662986G>A | NCBI36 |
| NG_023364.1:g.125525G>A | |
| NG_023364.2:g.156154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.654G>A MANE Select | ENSP00000264917.6:p.Ser218= | |
| ENST00000646262.1:c.282G>A | ENSP00000493971.1:p.Ser94= | |
| ENST00000264917.9:c.654G>A | ENSP00000264917.5:p.Ser218= | |
| ENST00000333194.8:c.654G>A | ENSP00000331336.4:p.Ser218= | |
| ENST00000340978.7:c.654G>A | ENSP00000345446.3:p.Ser218= | |
| ENST00000342343.8:c.594G>A | ENSP00000345646.4:p.Ser198= | |
| ENST00000346042.7:c.654G>A | ENSP00000330428.3:p.Ser218= | |
| ENST00000502945.1:c.282G>A | ENSP00000426200.1:p.Ser94= | |
| ENST00000503963.1:c.-61G>A | ENSP00000422861.1:n.-61G>A | |
| ENST00000505926.5:c.282G>A | ENSP00000425720.1:p.Ser94= | |
| NM_001029851.2:c.654G>A | NP_001025022.1:p.Ser218= | |
| NM_001029852.2:c.654G>A | NP_001025023.1:p.Ser218= | |
| NM_001029853.2:c.594G>A | NP_001025024.1:p.Ser198= | |
| NM_001029854.2:c.654G>A | NP_001025025.1:p.Ser218= | |
| NM_003719.3:c.654G>A | NP_003710.1:p.Ser218= | |
| XM_005248621.3:c.651G>A | XP_005248678.1:p.Ser217= | |
| XM_005248623.3:c.351G>A | XP_005248680.1:p.Ser117= | |
| XM_005248624.3:c.348G>A | XP_005248681.1:p.Ser116= | |
| XM_006714725.2:c.717G>A | XP_006714788.1:p.Ser239= | |
| XM_006714726.2:c.714G>A | XP_006714789.1:p.Ser238= | |
| XM_011543699.1:c.717G>A | XP_011542001.1:p.Ser239= | |
| XM_011543700.1:c.717G>A | XP_011542002.1:p.Ser239= | |
| XM_011543701.1:c.414G>A | XP_011542003.1:p.Ser138= | |
| XM_011543702.1:c.321G>A | XP_011542004.1:p.Ser107= | |
| XM_011543703.1:c.339G>A | XP_011542005.1:p.Ser113= | |
| XM_011543704.1:c.-61G>A | XP_011542006.1:n.-61G>A | |
| NM_001349748.1:c.651G>A | NP_001336677.1:p.Ser217= | |
| NM_001349749.1:c.717G>A | NP_001336678.1:p.Ser239= | |
| NM_001349750.1:c.414G>A | NP_001336679.1:p.Ser138= | |
| NM_001349751.1:c.651G>A | NP_001336680.1:p.Ser217= | |
| NM_001349752.1:c.348G>A | NP_001336681.1:p.Ser116= | |
| NM_001349753.1:c.282G>A | NP_001336682.1:p.Ser94= | |
| XM_005248623.4:c.351G>A | XP_005248680.1:p.Ser117= | |
| XM_006714726.3:c.714G>A | XP_006714789.1:p.Ser238= | |
| XM_011543699.3:c.717G>A | XP_011542001.1:p.Ser239= | |
| XM_011543700.3:c.717G>A | XP_011542002.1:p.Ser239= | |
| XM_011543704.2:c.-61G>A | XP_011542006.1:n.-61G>A | |
| XM_017010005.2:c.651G>A | XP_016865494.1:p.Ser217= | |
| XM_017010007.2:c.351G>A | XP_016865496.1:p.Ser117= | |
| XM_017010008.2:c.351G>A | XP_016865497.1:p.Ser117= | |
| XM_024446253.1:c.282G>A | XP_024302021.1:p.Ser94= | |
| XM_024446254.1:c.282G>A | XP_024302022.1:p.Ser94= | |
| NM_001029851.4:c.654G>A | NP_001025022.1:p.Ser218= | |
| NM_001029852.4:c.654G>A | NP_001025023.1:p.Ser218= | |
| NM_001029853.4:c.594G>A | NP_001025024.1:p.Ser198= | |
| NM_001029854.4:c.654G>A | NP_001025025.1:p.Ser218= | |
| NM_001349748.3:c.651G>A | NP_001336677.1:p.Ser217= | |
| NM_001349749.3:c.717G>A | NP_001336678.1:p.Ser239= | |
| NM_001349750.3:c.414G>A | NP_001336679.1:p.Ser138= | |
| NM_001349751.3:c.651G>A | NP_001336680.1:p.Ser217= | |
| NM_001349752.3:c.348G>A | NP_001336681.1:p.Ser116= | |
| NM_001349753.2:c.282G>A | NP_001336682.1:p.Ser94= | |
| NM_001376062.1:c.351G>A | NP_001362991.1:p.Ser117= | |
| NM_001376063.1:c.654G>A | NP_001362992.1:p.Ser218= | |
| NM_001376064.1:c.654G>A | NP_001362993.1:p.Ser218= | |
| NM_001376065.1:c.651G>A | NP_001362994.1:p.Ser217= | |
| NM_001376066.1:c.291G>A | NP_001362995.1:p.Ser97= | |
| NM_001376067.1:c.282G>A | NP_001362996.1:p.Ser94= | |
| NM_001376068.1:c.282G>A | NP_001362997.1:p.Ser94= | |
| NM_001376069.1:c.411G>A | NP_001362998.1:p.Ser137= | |
| NM_001376070.1:c.351G>A | NP_001362999.1:p.Ser117= | |
| NM_001376071.1:c.348G>A | NP_001363000.1:p.Ser116= | |
| NM_001376072.1:c.351G>A | NP_001363001.1:p.Ser117= | |
| NM_001376073.1:c.351G>A | NP_001363002.1:p.Ser117= | |
| NM_001376074.1:c.291G>A | NP_001363003.1:p.Ser97= | |
| NM_001376075.1:c.282G>A | NP_001363004.1:p.Ser94= | |
| NM_003719.5:c.654G>A MANE Select | NP_003710.1:p.Ser218= |