Linked Data
ClinVar Variation Id:
318974
ClinVar RCV Id:
RCV000389417
dbSNP Id:
rs886051933
gnomAD v4:
16-31090989-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090989A>G , CM000678.2:g.31090989A>G | GRCh38 |
| NC_000016.9:g.31102310A>G , CM000678.1:g.31102310A>G | GRCh37 |
| NC_000016.8:g.31009811A>G | NCBI36 |
| NG_011564.1:g.8967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394975.3:c.*145T>C MANE Select | ENSP00000378426.2:n.*145T>C | |
| ENST00000300851.10:c.*248T>C | ENSP00000300851.6:n.*248T>C | |
| ENST00000319788.11:c.*248T>C | ENSP00000326135.7:n.*248T>C | |
| ENST00000354895.4:c.*248T>C | ENSP00000346969.4:n.*248T>C | |
| ENST00000394975.2:c.*145T>C | ENSP00000378426.2:n.*145T>C | |
| ENST00000420057.2:c.599T>C | ||
| ENST00000529564.1:c.283+2323T>C | ENSP00000431371.1:n.283+2323T>C | |
| ENST00000532364.1:c.173+3568T>C | ENSP00000460316.1:n.173+3568T>C | |
| ENST00000533518.5:c.407+103T>C | ||
| NM_001311311.1:c.*145T>C | NP_001298240.1:n.*145T>C | |
| NM_024006.4:c.*145T>C | NP_076869.1:n.*145T>C | |
| NM_024006.5:c.*145T>C | NP_076869.1:n.*145T>C | |
| NM_206824.1:c.*248T>C | NP_996560.1:n.*248T>C | |
| NM_206824.2:c.*248T>C | NP_996560.1:n.*248T>C | |
| XM_011545944.1:c.*145T>C | XP_011544246.1:n.*145T>C | |
| XM_011545945.1:c.*248T>C | XP_011544247.1:n.*248T>C | |
| XR_950848.1:n.1425T>C | ||
| NM_024006.6:c.*145T>C MANE Select | NP_076869.1:n.*145T>C | |
| NM_001311311.2:c.*145T>C | NP_001298240.1:n.*145T>C | |
| NM_206824.3:c.*248T>C | NP_996560.1:n.*248T>C |