Linked Data
ClinVar Variation Id:
320407
ClinVar RCV Id:
RCV000313627
dbSNP Id:
rs748571289
ExAC:
16:71603852 G / A
gnomAD v2:
16-71603852-G-A
gnomAD v3:
16-71569949-G-A
gnomAD v4:
16-71569949-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71569949G>A , CM000678.2:g.71569949G>A | GRCh38 |
| NC_000016.9:g.71603852G>A , CM000678.1:g.71603852G>A | GRCh37 |
| NC_000016.8:g.70161353G>A | NCBI36 |
| NG_008235.1:g.12147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355962.5:c.1042-12C>T (TAT) MANE Select | ENSP00000348234.4:n.1042-12C>T | |
| ENST00000355962.4:c.1042-12C>T (TAT) | ENSP00000348234.4:n.1042-12C>T | |
| NM_000353.2:c.1042-12C>T (TAT) | NP_000344.1:n.1042-12C>T | |
| NR_103851.1:n.285-2071G>A (TAT-AS1) | ||
| NR_103852.1:n.259-2071G>A (TAT-AS1) | ||
| NM_000353.3:c.1042-12C>T (TAT) MANE Select | NP_000344.1:n.1042-12C>T |