Linked Data
ClinVar Variation Id:
2695496
ClinVar RCV Id:
RCV003542120
dbSNP Id:
rs191805094
ExAC:
16:58560051 G / C
gnomAD v2:
16-58560051-G-C
gnomAD v3:
16-58526147-G-C
gnomAD v4:
16-58526147-G-C
MyVariant Identifiers:
chr16:g.58560051G>C (hg19)
chr16:g.58560051_58560053delinsCAT (hg19)
chr16:g.58526147G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58526147G>C , CM000678.2:g.58526147G>C | GRCh38 |
| NC_000016.9:g.58560051G>C , CM000678.1:g.58560051G>C | GRCh37 |
| NC_000016.8:g.57117552G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.6454-9C>G MANE Select | ENSP00000320949.5:n.6454-9C>G | |
| ENST00000245138.8:c.469-9C>G | ENSP00000245138.5:n.469-9C>G | |
| ENST00000317147.9:c.6454-9C>G | ENSP00000320949.5:n.6454-9C>G | |
| ENST00000563130.5:n.1329-9C>G | ||
| ENST00000567188.5:c.*169-9C>G | ENSP00000456649.1:n.*169-9C>G | |
| ENST00000569240.5:c.6439-9C>G | ENSP00000455635.1:n.6439-9C>G | |
| NM_001265612.1:c.6439-9C>G | NP_001252541.1:n.6439-9C>G | |
| NM_016284.4:c.6454-9C>G | NP_057368.3:n.6454-9C>G | |
| NR_049763.1:n.6955-9C>G | ||
| NM_016284.5:c.6454-9C>G MANE Select | NP_057368.3:n.6454-9C>G | |
| NM_001265612.2:c.6439-9C>G | NP_001252541.1:n.6439-9C>G | |
| NR_049763.2:n.6895-9C>G |