Linked Data
ClinVar Variation Id:
2987248
ClinVar RCV Id:
RCV003848887
dbSNP Id:
rs1425360968
gnomAD v2:
X-38268296-T-C
gnomAD v4:
X-38409043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38409043T>C , CM000685.2:g.38409043T>C | GRCh38 |
| NC_000023.10:g.38268296T>C , CM000685.1:g.38268296T>C | GRCh37 |
| NC_000023.9:g.38153240T>C | NCBI36 |
| NG_008471.1:g.61561T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.867+18T>C MANE Select | ENSP00000039007.4:n.867+18T>C | |
| ENST00000643344.1:c.*617+18T>C | ENSP00000496606.1:n.*617+18T>C | |
| ENST00000039007.4:c.867+18T>C | ENSP00000039007.4:n.867+18T>C | |
| ENST00000465127.1:c.172-257078T>C | ENSP00000417050.1:n.172-257078T>C | |
| NM_000531.5:c.867+18T>C | NP_000522.3:n.867+18T>C | |
| XM_017029556.1:c.867+18T>C | XP_016885045.1:n.867+18T>C | |
| NM_000531.6:c.867+18T>C MANE Select | NP_000522.3:n.867+18T>C |