Linked Data
ClinVar Variation Id:
471239
ClinVar RCV Id:
RCV000533934
dbSNP Id:
rs181800610
ExAC:
17:7907061 G / T
gnomAD v2:
17-7907061-G-T
gnomAD v3:
17-8003743-G-T
gnomAD v4:
17-8003743-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003743G>T , CM000679.2:g.8003743G>T | GRCh38 |
| NC_000017.10:g.7907061G>T , CM000679.1:g.7907061G>T | GRCh37 |
| NC_000017.9:g.7847786G>T | NCBI36 |
| NG_009092.1:g.6074G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254854.5:c.696G>T MANE Select | ENSP00000254854.4:p.Lys232Asn | |
| ENST00000254854.4:c.696G>T | ENSP00000254854.4:p.Lys232Asn | |
| NM_000180.3:c.696G>T | NP_000171.1:p.Lys232Asn | |
| XM_011523816.1:c.696G>T | XP_011522118.1:p.Lys232Asn | |
| NM_000180.4:c.696G>T MANE Select | NP_000171.1:p.Lys232Asn |