Linked Data
ClinVar Variation Id:
1233865
ClinVar RCV Id:
RCV001619047
dbSNP Id:
rs4889294
ExAC:
16:81303759 T / C
gnomAD v2:
16-81303759-T-C
gnomAD v3:
16-81270154-T-C
gnomAD v4:
16-81270154-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81270154T>C , CM000678.2:g.81270154T>C | GRCh38 |
| NC_000016.9:g.81303759T>C , CM000678.1:g.81303759T>C | GRCh37 |
| NC_000016.8:g.79861260T>C | NCBI36 |
| NG_012171.1:g.36464T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258168.7:c.844-5T>C MANE Select | ENSP00000258168.2:n.844-5T>C | |
| ENST00000258168.6:c.844-5T>C | ENSP00000258168.2:n.844-5T>C | |
| ENST00000563804.5:c.*468-5T>C | ENSP00000457910.1:n.*468-5T>C | |
| NM_017429.2:c.844-5T>C | NP_059125.2:n.844-5T>C | |
| XM_011523109.1:c.844-5T>C | XP_011521411.1:n.844-5T>C | |
| XM_011523110.1:c.295-5T>C | XP_011521412.1:n.295-5T>C | |
| XM_011523109.2:c.844-5T>C | XP_011521411.1:n.844-5T>C | |
| XM_017023286.2:c.844-5T>C | XP_016878775.1:n.844-5T>C | |
| XM_017023287.2:c.844-5T>C | XP_016878776.1:n.844-5T>C | |
| XM_017023288.2:c.844-5T>C | XP_016878777.1:n.844-5T>C | |
| XM_017023289.1:c.67-5T>C | XP_016878778.1:n.67-5T>C | |
| XR_002957813.1:n.1171-5T>C | ||
| NM_017429.3:c.844-5T>C MANE Select | NP_059125.2:n.844-5T>C |