Linked Data
ClinVar Variation Id:
367915
ClinVar RCV Id:
RCV000400979
dbSNP Id:
rs1057515773
gnomAD v3:
X-132127946-C-T
gnomAD v4:
X-132127946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132127946C>T , CM000685.2:g.132127946C>T | GRCh38 |
| NC_000023.10:g.131261974C>T , CM000685.1:g.131261974C>T | GRCh37 |
| NC_000023.9:g.131089655C>T | NCBI36 |
| NG_012347.1:g.5077G>A , LRG_867:g.5077G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298542.9:c.-102G>A MANE Select | ENSP00000298542.3:n.-102G>A | |
| ENST00000298542.8:c.-102G>A | ENSP00000298542.3:n.-102G>A | |
| NM_001306193.1:c.-102G>A | NP_001293122.1:n.-102G>A | |
| NM_194277.2:c.-102G>A , LRG_867t1:c.-102G>A | NP_919253.1:n.-102G>A | |
| NM_001306193.2:c.-102G>A | NP_001293122.1:n.-102G>A | |
| NM_194277.3:c.-102G>A MANE Select | NP_919253.1:n.-102G>A |