Linked Data
ClinVar Variation Id:
1947770
ClinVar RCV Id:
RCV002663574
dbSNP Id:
rs1417572804
gnomAD v2:
19-18896800-A-G
gnomAD v4:
19-18785990-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785990A>G , CM000681.2:g.18785990A>G | GRCh38 |
| NC_000019.9:g.18896800A>G , CM000681.1:g.18896800A>G | GRCh37 |
| NC_000019.8:g.18757800A>G | NCBI36 |
| NG_007070.1:g.10315T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1464T>C MANE Select | ENSP00000222271.2:p.Pro488= | |
| ENST00000222271.6:c.1464T>C | ENSP00000222271.2:p.Pro488= | |
| ENST00000425807.1:c.1305T>C | ENSP00000403792.1:p.Pro435= | |
| ENST00000542601.6:c.1365T>C | ENSP00000439156.2:p.Pro455= | |
| NM_000095.2:c.1464T>C | NP_000086.2:p.Pro488= | |
| NM_000095.3:c.1464T>C MANE Select | NP_000086.2:p.Pro488= |