Linked Data
ClinVar Variation Id:
1451933
ClinVar RCV Id:
RCV002007463
dbSNP Id:
rs756986331
gnomAD v2:
8-87683284-A-C
gnomAD v4:
8-86671056-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671056A>C , CM000670.2:g.86671056A>C | GRCh38 |
| NC_000008.10:g.87683284A>C , CM000670.1:g.87683284A>C | GRCh37 |
| NC_000008.9:g.87752400A>C | NCBI36 |
| NG_016980.1:g.77620T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.381T>G MANE Select | ENSP00000316605.5:p.Tyr127Ter | |
| ENST00000680314.1:n.142T>G | ||
| ENST00000681746.1:c.381T>G | ENSP00000505959.1:p.Tyr127Ter | |
| ENST00000320005.5:c.381T>G | ENSP00000316605.5:p.Tyr127Ter | |
| NM_019098.4:c.381T>G | NP_061971.3:p.Tyr127Ter | |
| XM_011517138.1:c.-34T>G | XP_011515440.1:n.-34T>G | |
| XM_011517138.2:c.-34T>G | XP_011515440.1:n.-34T>G | |
| NM_019098.5:c.381T>G MANE Select | NP_061971.3:p.Tyr127Ter |