Linked Data
ClinVar Variation Id:
2919051
ClinVar RCV Id:
RCV003764427
dbSNP Id:
rs757238633
ExAC:
X:70348437 T / C
gnomAD v2:
X-70348437-T-C
gnomAD v4:
X-71128587-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71128587T>C , CM000685.2:g.71128587T>C | GRCh38 |
| NC_000023.10:g.70348437T>C , CM000685.1:g.70348437T>C | GRCh37 |
| NC_000023.9:g.70265162T>C | NCBI36 |
| NG_012808.1:g.15032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.3235-11T>C | ENSP00000333125.8:n.3235-11T>C | |
| ENST00000374102.6:c.3355-11T>C | ENSP00000363215.2:n.3355-11T>C | |
| ENST00000489199.2:c.374-11T>C | ||
| ENST00000686548.1:c.*3251-11T>C | ENSP00000509582.1:n.*3251-11T>C | |
| ENST00000687382.1:c.3355-11T>C | ENSP00000510724.1:n.3355-11T>C | |
| ENST00000688079.1:n.1350-11T>C | ||
| ENST00000688663.1:c.*141-11T>C | ENSP00000509348.1:n.*141-11T>C | |
| ENST00000689768.1:n.1965-11T>C | ||
| ENST00000690145.1:c.3355-11T>C | ENSP00000508818.1:n.3355-11T>C | |
| ENST00000690242.1:c.3355-11T>C | ENSP00000510090.1:n.3355-11T>C | |
| ENST00000690250.1:n.357-11T>C | ||
| ENST00000690828.1:n.3511-11T>C | ||
| ENST00000691113.1:c.1834-11T>C | ENSP00000509755.1:n.1834-11T>C | |
| ENST00000691426.1:n.2078T>C | ||
| ENST00000691468.1:c.3304-11T>C | ENSP00000509011.1:n.3304-11T>C | |
| ENST00000692304.1:c.3355-11T>C | ENSP00000508427.1:n.3355-11T>C | |
| ENST00000692893.1:n.269-11T>C | ||
| ENST00000693324.1:c.3319-11T>C | ENSP00000508643.1:n.3319-11T>C | |
| ENST00000693391.1:c.1300-11T>C | ENSP00000509563.1:n.1300-11T>C | |
| ENST00000374080.8:c.3355-11T>C MANE Select | ENSP00000363193.3:n.3355-11T>C | |
| ENST00000333646.10:c.2896-11T>C | ENSP00000333125.7:n.2896-11T>C | |
| ENST00000374080.7:c.3355-11T>C | ENSP00000363193.3:n.3355-11T>C | |
| ENST00000374102.5:c.3355-11T>C | ENSP00000363215.1:n.3355-11T>C | |
| ENST00000489199.1:n.127-11T>C | ||
| NM_005120.2:c.3355-11T>C | NP_005111.2:n.3355-11T>C | |
| XM_005262317.1:c.3355-11T>C | XP_005262374.1:n.3355-11T>C | |
| XM_005262319.1:c.3355-11T>C | XP_005262376.1:n.3355-11T>C | |
| NM_005120.3:c.3355-11T>C MANE Select | NP_005111.2:n.3355-11T>C |