Linked Data
ClinVar Variation Id:
318468
ClinVar RCV Id:
RCV000296660
dbSNP Id:
rs759680428
ExAC:
16:23409463 C / T
gnomAD v2:
16-23409463-C-T
gnomAD v4:
16-23398142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23398142C>T , CM000678.2:g.23398142C>T | GRCh38 |
| NC_000016.9:g.23409463C>T , CM000678.1:g.23409463C>T | GRCh37 |
| NC_000016.8:g.23316964C>T | NCBI36 |
| NG_021287.1:g.60050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.1804-13G>A MANE Select | ENSP00000305442.5:n.1804-13G>A | |
| ENST00000307149.9:c.1804-13G>A | ENSP00000305442.5:n.1804-13G>A | |
| ENST00000567821.1:n.839-13G>A | ||
| NM_153603.3:c.1804-13G>A | NP_705831.1:n.1804-13G>A | |
| XR_429680.1:n.2020-13G>A | ||
| XM_017023870.1:c.1609-13G>A | XP_016879359.1:n.1609-13G>A | |
| XR_002957852.1:n.2025-13G>A | ||
| XR_429680.2:n.2025-13G>A | ||
| NM_153603.4:c.1804-13G>A MANE Select | NP_705831.1:n.1804-13G>A |