Linked Data
ClinVar Variation Id:
166662
ClinVar RCV Id:
RCV000152760
dbSNP Id:
rs138706948
ExAC:
X:115303764 G / T
gnomAD v2:
X-115303764-G-T
gnomAD v3:
X-116172511-G-T
gnomAD v4:
X-116172511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172511G>T , CM000685.2:g.116172511G>T | GRCh38 |
| NC_000023.10:g.115303764G>T , CM000685.1:g.115303764G>T | GRCh37 |
| NC_000023.9:g.115217792G>T | NCBI36 |
| NG_016326.1:g.6807G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.231G>T MANE Select | ENSP00000360973.4:p.Lys77Asn | |
| ENST00000680409.1:n.699G>T | ||
| ENST00000681852.1:c.231G>T | ENSP00000505750.1:p.Lys77Asn | |
| ENST00000371906.4:c.231G>T | ENSP00000360973.4:p.Lys77Asn | |
| NM_000686.4:c.231G>T | NP_000677.2:p.Lys77Asn | |
| XM_011537533.1:c.231G>T | XP_011535835.1:p.Lys77Asn | |
| NM_000686.5:c.231G>T MANE Select | NP_000677.2:p.Lys77Asn | |
| NM_001385624.1:c.231G>T | NP_001372553.1:p.Lys77Asn |