Linked Data
ClinVar Variation Id:
9993
dbSNP Id:
rs137852522
gnomAD v4:
X-153862856-G-A
PubMed:
PMID:7881431
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153862856G>A , CM000685.2:g.153862856G>A | GRCh38 |
| NC_000023.10:g.153128311G>A , CM000685.1:g.153128311G>A | GRCh37 |
| NC_000023.9:g.152781505G>A | NCBI36 |
| NG_009645.3:g.51368C>T | |
| NG_009645.4:g.28318C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370060.7:c.3581C>T MANE Select | ENSP00000359077.1:p.Ser1194Leu | |
| ENST00000361699.8:c.3569C>T | ENSP00000355380.4:p.Ser1190Leu | |
| ENST00000361981.7:c.3554C>T | ENSP00000354712.3:p.Ser1185Leu | |
| ENST00000370055.5:c.3554C>T | ENSP00000359072.1:p.Ser1185Leu | |
| ENST00000370058.7:c.269C>T | ENSP00000359075.3:p.Ser90Leu | |
| ENST00000370060.5:c.3581C>T | ENSP00000359077.1:p.Ser1194Leu | |
| ENST00000491983.1:n.544C>T | ||
| NM_000425.4:c.3581C>T | NP_000416.1:p.Ser1194Leu | |
| NM_001143963.2:c.3554C>T | NP_001137435.1:p.Ser1185Leu | |
| NM_001278116.1:c.3581C>T | NP_001265045.1:p.Ser1194Leu | |
| NM_024003.3:c.3569C>T | NP_076493.1:p.Ser1190Leu | |
| NM_000425.5:c.3581C>T | NP_000416.1:p.Ser1194Leu | |
| NM_001278116.2:c.3581C>T MANE Select | NP_001265045.1:p.Ser1194Leu |