Linked Data
ClinVar Variation Id:
2740958
ClinVar RCV Id:
RCV003523565
dbSNP Id:
rs1457677814
gnomAD v2:
X-69176998-T-C
gnomAD v4:
X-69957148-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69957148T>C , CM000685.2:g.69957148T>C | GRCh38 |
| NC_000023.10:g.69176998T>C , CM000685.1:g.69176998T>C | GRCh37 |
| NC_000023.9:g.69093723T>C | NCBI36 |
| NG_009809.1:g.346088T>C | |
| NG_009809.2:g.346082T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.502+16T>C MANE Select | ENSP00000363680.4:n.502+16T>C | |
| ENST00000374548.5:n.760T>C | ||
| ENST00000374552.8:c.502+16T>C | ENSP00000363680.4:n.502+16T>C | |
| ENST00000374553.6:c.502+16T>C | ENSP00000363681.2:n.502+16T>C | |
| ENST00000502251.5:n.811T>C | ||
| ENST00000503592.5:c.106+16T>C | ENSP00000423037.1:n.106+16T>C | |
| ENST00000524573.5:c.502+16T>C | ENSP00000432585.1:n.502+16T>C | |
| ENST00000533317.5:n.1133T>C | ||
| ENST00000616899.1:c.106+16T>C | ENSP00000481963.1:n.106+16T>C | |
| NM_001005609.1:c.502+16T>C | NP_001005609.1:n.502+16T>C | |
| NM_001005612.2:c.502+16T>C | NP_001005612.2:n.502+16T>C | |
| NM_001399.4:c.502+16T>C | NP_001390.1:n.502+16T>C | |
| XM_006724630.2:c.502+16T>C | XP_006724693.1:n.502+16T>C | |
| XM_011530885.1:c.502+16T>C | XP_011529187.1:n.502+16T>C | |
| XM_011530885.2:c.502+16T>C | XP_011529187.1:n.502+16T>C | |
| XM_017029336.1:c.502+16T>C | XP_016884825.1:n.502+16T>C | |
| NM_001399.5:c.502+16T>C MANE Select | NP_001390.1:n.502+16T>C | |
| NM_001005609.2:c.502+16T>C | NP_001005609.1:n.502+16T>C | |
| NM_001005612.3:c.502+16T>C | NP_001005612.2:n.502+16T>C |