Linked Data
ClinVar Variation Id:
368138
ClinVar RCV Id:
RCV000303294
dbSNP Id:
rs147409916
gnomAD v2:
X-154489009-T-G
gnomAD v3:
X-155259724-T-G
gnomAD v4:
X-155259724-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155259724T>G , CM000685.2:g.155259724T>G | GRCh38 |
| NC_000023.10:g.154489009T>G , CM000685.1:g.154489009T>G | GRCh37 |
| NC_000023.9:g.154142203T>G | NCBI36 |
| NG_012626.2:g.9838A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369454.4:c.*1079A>C MANE Select | ENSP00000358466.3:n.*1079A>C | |
| ENST00000369454.3:c.*1079A>C | ENSP00000358466.3:n.*1079A>C | |
| NM_171998.3:c.*1079A>C | NP_741995.1:n.*1079A>C | |
| NM_171998.4:c.*1079A>C MANE Select | NP_741995.1:n.*1079A>C |