Linked Data
ClinVar Variation Id:
1597361
ClinVar RCV Id:
RCV002105774
dbSNP Id:
rs1190812009
gnomAD v2:
X-38268286-T-C
gnomAD v3:
X-38409033-T-C
gnomAD v4:
X-38409033-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38409033T>C , CM000685.2:g.38409033T>C | GRCh38 |
| NC_000023.10:g.38268286T>C , CM000685.1:g.38268286T>C | GRCh37 |
| NC_000023.9:g.38153230T>C | NCBI36 |
| NG_008471.1:g.61551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.867+8T>C MANE Select | ENSP00000039007.4:n.867+8T>C | |
| ENST00000643344.1:c.*617+8T>C | ENSP00000496606.1:n.*617+8T>C | |
| ENST00000039007.4:c.867+8T>C | ENSP00000039007.4:n.867+8T>C | |
| ENST00000465127.1:c.172-257088T>C | ENSP00000417050.1:n.172-257088T>C | |
| NM_000531.5:c.867+8T>C | NP_000522.3:n.867+8T>C | |
| XM_017029556.1:c.867+8T>C | XP_016885045.1:n.867+8T>C | |
| NM_000531.6:c.867+8T>C MANE Select | NP_000522.3:n.867+8T>C |