Linked Data
dbSNP Id:
rs769811406
ExAC:
5:58511617 G / A
gnomAD v2:
5-58511617-G-A
gnomAD v3:
5-59215791-G-A
gnomAD v4:
5-59215791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59215791G>A , CM000667.2:g.59215791G>A | GRCh38 |
| NC_000005.9:g.58511617G>A , CM000667.1:g.58511617G>A | GRCh37 |
| NC_000005.8:g.58547374G>A | NCBI36 |
| NG_027957.1:g.1277309C>T | |
| NG_027957.2:g.1313539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.441C>T | ENSP00000424852.1:p.Ser147= | |
| ENST00000340635.11:c.633C>T MANE Select | ENSP00000345502.6:p.Ser211= | |
| ENST00000636120.1:c.303C>T | ENSP00000490821.1:p.Ser101= | |
| ENST00000638939.1:c.198C>T | ENSP00000492052.1:p.Ser66= | |
| ENST00000309641.10:c.441C>T | ENSP00000308485.6:p.Ser147= | |
| ENST00000340635.10:c.633C>T | ENSP00000345502.6:p.Ser211= | |
| ENST00000360047.9:c.225C>T | ENSP00000353152.5:p.Ser75= | |
| ENST00000405053.7:n.296C>T | ||
| ENST00000405755.6:c.267C>T | ENSP00000384806.2:p.Ser89= | |
| ENST00000502484.6:c.450C>T | ENSP00000423094.2:p.Ser150= | |
| ENST00000502575.1:c.441C>T | ENSP00000425917.1:p.Ser147= | |
| ENST00000503258.5:c.243C>T | ENSP00000425605.1:p.Ser81= | |
| ENST00000505453.1:c.-98-176820C>T | ENSP00000421013.1:n.-98-176820C>T | |
| ENST00000507116.5:c.441C>T | ENSP00000424852.1:p.Ser147= | |
| ENST00000514231.1:n.396C>T | ||
| ENST00000515324.1:n.145C>T | ||
| ENST00000546160.5:c.240C>T | ENSP00000442734.2:p.Ser80= | |
| ENST00000621323.4:n.178C>T | ||
| NM_001104631.1:c.633C>T | NP_001098101.1:p.Ser211= | |
| NM_001165899.1:c.450C>T | NP_001159371.1:p.Ser150= | |
| NM_001197218.1:c.441C>T | NP_001184147.1:p.Ser147= | |
| NM_001197219.1:c.267C>T | NP_001184148.1:p.Ser89= | |
| NM_001197220.1:c.243C>T | NP_001184149.1:p.Ser81= | |
| NM_006203.4:c.225C>T | NP_006194.2:p.Ser75= | |
| XM_005248537.2:c.303C>T | XP_005248594.1:p.Ser101= | |
| XM_005248538.3:c.225C>T | XP_005248595.1:p.Ser75= | |
| XM_011543469.1:c.597C>T | XP_011541771.1:p.Ser199= | |
| XM_011543470.1:c.597C>T | XP_011541772.1:p.Ser199= | |
| XM_011543471.1:c.450C>T | XP_011541773.1:p.Ser150= | |
| XM_011543472.1:c.450C>T | XP_011541774.1:p.Ser150= | |
| XM_011543473.1:c.450C>T | XP_011541775.1:p.Ser150= | |
| XM_011543474.1:c.420C>T | XP_011541776.1:p.Ser140= | |
| XM_011543475.1:c.267C>T | XP_011541777.1:p.Ser89= | |
| XM_011543476.1:c.213C>T | XP_011541778.1:p.Ser71= | |
| XM_011543477.1:c.192C>T | XP_011541779.1:p.Ser64= | |
| XM_011543478.1:c.129C>T | XP_011541780.1:p.Ser43= | |
| XM_011543479.1:c.129C>T | XP_011541781.1:p.Ser43= | |
| NM_001349241.1:c.420C>T | NP_001336170.1:p.Ser140= | |
| NM_001349242.1:c.303C>T | NP_001336171.1:p.Ser101= | |
| NM_001349243.1:c.-62C>T | NP_001336172.1:n.-62C>T | |
| NM_001364599.1:c.450C>T | NP_001351528.1:p.Ser150= | |
| NM_001364600.1:c.450C>T | NP_001351529.1:p.Ser150= | |
| NM_001364601.1:c.441C>T | NP_001351530.1:p.Ser147= | |
| NM_001364602.1:c.441C>T | NP_001351531.1:p.Ser147= | |
| NM_001364603.1:c.-318C>T | NP_001351532.1:n.-318C>T | |
| NM_001364604.1:c.-62C>T | NP_001351533.1:n.-62C>T | |
| XM_011543470.2:c.597C>T | XP_011541772.1:p.Ser199= | |
| XM_011543471.2:c.450C>T | XP_011541773.1:p.Ser150= | |
| XM_017009565.1:c.597C>T | XP_016865054.1:p.Ser199= | |
| XM_017009566.1:c.450C>T | XP_016865055.1:p.Ser150= | |
| XM_017009567.1:c.435C>T | XP_016865056.1:p.Ser145= | |
| XM_024446110.1:c.597C>T | XP_024301878.1:p.Ser199= | |
| XM_024446112.1:c.450C>T | XP_024301880.1:p.Ser150= | |
| NM_001104631.2:c.633C>T MANE Select | NP_001098101.1:p.Ser211= | |
| NM_001165899.2:c.450C>T | NP_001159371.1:p.Ser150= | |
| NM_001197218.2:c.441C>T | NP_001184147.1:p.Ser147= | |
| NM_001197219.2:c.267C>T | NP_001184148.1:p.Ser89= | |
| NM_001197220.2:c.243C>T | NP_001184149.1:p.Ser81= | |
| NM_001349241.2:c.420C>T | NP_001336170.1:p.Ser140= | |
| NM_001349243.2:c.-62C>T | NP_001336172.1:n.-62C>T | |
| NM_001364600.2:c.450C>T | NP_001351529.1:p.Ser150= | |
| NM_001364602.2:c.441C>T | NP_001351531.1:p.Ser147= | |
| NM_001349242.2:c.303C>T | NP_001336171.1:p.Ser101= | |
| NM_006203.5:c.225C>T | NP_006194.2:p.Ser75= |