Linked Data
ClinVar Variation Id:
53116
ClinVar RCV Id:
RCV000046142
RCV000057775
RCV000182123
RCV000619785
RCV003591649
RCV004528256
RCV003319313
dbSNP Id:
rs199472730
gnomAD v3:
11-2572895-C-T
gnomAD v4:
11-2572895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572895C>T , CM000673.2:g.2572895C>T | GRCh38 |
| NC_000011.9:g.2594125C>T , CM000673.1:g.2594125C>T | GRCh37 |
| NC_000011.8:g.2550701C>T | NCBI36 |
| NG_008935.1:g.132905C>T , LRG_287:g.132905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.569C>T | ENSP00000434560.2:p.Ser190Leu | |
| ENST00000646564.2:c.478-10540C>T | ENSP00000495806.2:n.478-10540C>T | |
| ENST00000155840.12:c.830C>T MANE Select | ENSP00000155840.2:p.Ser277Leu | |
| ENST00000335475.6:c.449C>T | ENSP00000334497.5:p.Ser150Leu | |
| ENST00000646564.1:c.124-10540C>T | ENSP00000495806.1:n.124-10540C>T | |
| ENST00000155840.9:c.830C>T | ENSP00000155840.2:p.Ser277Leu | |
| ENST00000335475.5:c.449C>T | ENSP00000334497.5:p.Ser150Leu | |
| ENST00000496887.6:c.569C>T | ENSP00000434560.1:p.Ser190Leu | |
| NM_000218.2:c.830C>T , LRG_287t1:c.830C>T | NP_000209.2:p.Ser277Leu | |
| NM_181798.1:c.449C>T , LRG_287t2:c.449C>T | NP_861463.1:p.Ser150Leu | |
| NM_000218.3:c.830C>T MANE Select | NP_000209.2:p.Ser277Leu |