Linked Data
ClinVar Variation Id:
366001
ClinVar RCV Id:
RCV000320747
dbSNP Id:
rs771654748
ExAC:
9:140638520 C / T
gnomAD v2:
9-140638520-C-T
gnomAD v3:
9-137744068-C-T
gnomAD v4:
9-137744068-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137744068C>T , CM000671.2:g.137744068C>T | GRCh38 |
| NC_000009.11:g.140638520C>T , CM000671.1:g.140638520C>T | GRCh37 |
| NC_000009.10:g.139758341C>T | NCBI36 |
| NG_011776.1:g.130077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1148C>T MANE Select | ENSP00000417980.1:p.Ser383Leu | |
| ENST00000629335.2:c.1148C>T | ENSP00000490056.1:p.Ser383Leu | |
| ENST00000636027.1:c.1034C>T | ENSP00000489961.1:p.Ser345Leu | |
| ENST00000637161.1:c.1055C>T | ENSP00000490328.1:p.Ser352Leu | |
| ENST00000637261.1:c.1188C>T | ENSP00000490815.1:n.1188C>T | |
| ENST00000637318.1:c.272C>T | ENSP00000490611.1:p.Ser91Leu | |
| ENST00000637977.1:c.1093C>T | ||
| ENST00000638071.1:c.853C>T | ||
| ENST00000640639.1:c.317C>T | ENSP00000491823.1:p.Ser106Leu | |
| ENST00000371394.6:c.*883C>T | ENSP00000485945.1:n.*883C>T | |
| ENST00000460843.5:c.1148C>T | ENSP00000417980.1:p.Ser383Leu | |
| ENST00000462484.5:c.1148C>T | ENSP00000417328.1:p.Ser383Leu | |
| ENST00000462942.3:c.5C>T | ENSP00000436107.1:p.Ser2Leu | |
| ENST00000478940.1:n.439C>T | ||
| ENST00000495657.5:n.498C>T | ||
| ENST00000626066.2:c.1051C>T | ||
| ENST00000629808.2:c.319C>T | ||
| NM_001145527.1:c.1148C>T | NP_001138999.1:p.Ser383Leu | |
| NM_024757.4:c.1148C>T | NP_079033.4:p.Ser383Leu | |
| XM_005266105.3:c.1139C>T | XP_005266162.1:p.Ser380Leu | |
| XM_005266110.1:c.1055C>T | XP_005266167.1:p.Ser352Leu | |
| XM_006717288.2:c.1130C>T | XP_006717351.1:p.Ser377Leu | |
| XM_011519021.1:c.1157C>T | XP_011517323.1:p.Ser386Leu | |
| XM_011519022.1:c.1154C>T | XP_011517324.1:p.Ser385Leu | |
| XM_011519023.1:c.1136C>T | XP_011517325.1:p.Ser379Leu | |
| XM_011519024.1:c.1157C>T | XP_011517326.1:p.Ser386Leu | |
| XM_011519025.1:c.1055C>T | XP_011517327.1:p.Ser352Leu | |
| XM_011519026.1:c.1157C>T | XP_011517328.1:p.Ser386Leu | |
| XM_011519027.1:c.1157C>T | XP_011517329.1:p.Ser386Leu | |
| XM_011519028.1:c.1157C>T | XP_011517330.1:p.Ser386Leu | |
| XM_011519033.1:c.1136C>T | XP_011517335.1:p.Ser379Leu | |
| NM_001354259.1:c.1055C>T | NP_001341188.1:p.Ser352Leu | |
| NM_001354263.1:c.1127C>T | NP_001341192.1:p.Ser376Leu | |
| NM_001354611.1:c.1148C>T | NP_001341540.1:p.Ser383Leu | |
| NM_001354612.1:c.1055C>T | NP_001341541.1:p.Ser352Leu | |
| XM_005266105.5:c.1139C>T | XP_005266162.1:p.Ser380Leu | |
| XM_011519021.3:c.1157C>T | XP_011517323.1:p.Ser386Leu | |
| XM_011519022.3:c.1154C>T | XP_011517324.1:p.Ser385Leu | |
| XM_011519023.3:c.1136C>T | XP_011517325.1:p.Ser379Leu | |
| XM_017015134.1:c.1133C>T | XP_016870623.1:p.Ser378Leu | |
| XM_017015136.2:c.1127C>T | XP_016870625.1:p.Ser376Leu | |
| XM_017015137.1:c.1034C>T | XP_016870626.1:p.Ser345Leu | |
| XM_017015138.1:c.1034C>T | XP_016870627.1:p.Ser345Leu | |
| XM_024447674.1:c.1055C>T | XP_024303442.1:p.Ser352Leu | |
| XM_024447675.1:c.1055C>T | XP_024303443.1:p.Ser352Leu | |
| XM_024447676.1:c.272C>T | XP_024303444.1:p.Ser91Leu | |
| XM_024447677.1:c.272C>T | XP_024303445.1:p.Ser91Leu | |
| XM_024447678.1:c.1055C>T | XP_024303446.1:p.Ser352Leu | |
| XM_024447679.1:c.1055C>T | XP_024303447.1:p.Ser352Leu | |
| XM_024447680.1:c.1034C>T | XP_024303448.1:p.Ser345Leu | |
| NM_024757.5:c.1148C>T MANE Select | NP_079033.4:p.Ser383Leu | |
| NM_001145527.2:c.1148C>T | NP_001138999.1:p.Ser383Leu | |
| NM_001354259.2:c.1055C>T | NP_001341188.1:p.Ser352Leu | |
| NM_001354263.2:c.1127C>T | NP_001341192.1:p.Ser376Leu | |
| NM_001354611.2:c.1148C>T | NP_001341540.1:p.Ser383Leu | |
| NM_001354612.2:c.1055C>T | NP_001341541.1:p.Ser352Leu |