Linked Data
ClinVar Variation Id:
138001
ClinVar RCV Id:
RCV000150868
RCV000227652
RCV000619503
RCV001108022
RCV001108021
RCV001108023
RCV001083007
RCV001108020
RCV001842425
dbSNP Id:
rs189991547
ExAC:
11:2594106 C / T
gnomAD v2:
11-2594106-C-T
gnomAD v3:
11-2572876-C-T
gnomAD v4:
11-2572876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572876C>T , CM000673.2:g.2572876C>T | GRCh38 |
| NC_000011.9:g.2594106C>T , CM000673.1:g.2594106C>T | GRCh37 |
| NC_000011.8:g.2550682C>T | NCBI36 |
| NG_008935.1:g.132886C>T , LRG_287:g.132886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.550C>T | ENSP00000434560.2:p.Leu184= | |
| ENST00000646564.2:c.478-10559C>T | ENSP00000495806.2:n.478-10559C>T | |
| ENST00000155840.12:c.811C>T MANE Select | ENSP00000155840.2:p.Leu271= | |
| ENST00000335475.6:c.430C>T | ENSP00000334497.5:p.Leu144= | |
| ENST00000646564.1:c.124-10559C>T | ENSP00000495806.1:n.124-10559C>T | |
| ENST00000155840.9:c.811C>T | ENSP00000155840.2:p.Leu271= | |
| ENST00000335475.5:c.430C>T | ENSP00000334497.5:p.Leu144= | |
| ENST00000496887.6:c.550C>T | ENSP00000434560.1:p.Leu184= | |
| NM_000218.2:c.811C>T , LRG_287t1:c.811C>T | NP_000209.2:p.Leu271= | |
| NM_181798.1:c.430C>T , LRG_287t2:c.430C>T | NP_861463.1:p.Leu144= | |
| NM_000218.3:c.811C>T MANE Select | NP_000209.2:p.Leu271= |