Linked Data
ClinVar Variation Id:
42493
ClinVar RCV Id:
RCV000035349
RCV000204862
RCV000250450
RCV000308709
RCV000312089
RCV000395472
RCV000756283
RCV001094029
RCV001841563
dbSNP Id:
rs28730754
ExAC:
11:2593279 C / T
gnomAD v2:
11-2593279-C-T
gnomAD v3:
11-2572049-C-T
gnomAD v4:
11-2572049-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572049C>T , CM000673.2:g.2572049C>T | GRCh38 |
| NC_000011.9:g.2593279C>T , CM000673.1:g.2593279C>T | GRCh37 |
| NC_000011.8:g.2549855C>T | NCBI36 |
| NG_008935.1:g.132059C>T , LRG_287:g.132059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.459C>T | ENSP00000434560.2:p.His153= | |
| ENST00000646564.2:c.478-11386C>T | ENSP00000495806.2:n.478-11386C>T | |
| ENST00000155840.12:c.720C>T MANE Select | ENSP00000155840.2:p.His240= | |
| ENST00000335475.6:c.339C>T | ENSP00000334497.5:p.His113= | |
| ENST00000646564.1:c.124-11386C>T | ENSP00000495806.1:n.124-11386C>T | |
| ENST00000155840.9:c.720C>T | ENSP00000155840.2:p.His240= | |
| ENST00000335475.5:c.339C>T | ENSP00000334497.5:p.His113= | |
| ENST00000496887.6:c.459C>T | ENSP00000434560.1:p.His153= | |
| NM_000218.2:c.720C>T , LRG_287t1:c.720C>T | NP_000209.2:p.His240= | |
| NM_181798.1:c.339C>T , LRG_287t2:c.339C>T | NP_861463.1:p.His113= | |
| NM_000218.3:c.720C>T MANE Select | NP_000209.2:p.His240= |