Linked Data
ClinVar Variation Id:
488512
ClinVar RCV Id:
RCV000578281
dbSNP Id:
rs957683798
gnomAD v4:
16-74774654-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774654G>C , CM000678.2:g.74774654G>C | GRCh38 |
| NC_000016.9:g.74808552G>C , CM000678.1:g.74808552G>C | GRCh37 |
| NC_000016.8:g.73366053G>C | NCBI36 |
| NG_017070.1:g.5178C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.102C>G MANE Select | ENSP00000219368.3:p.Tyr34Ter | |
| ENST00000219368.7:c.102C>G | ENSP00000219368.3:p.Tyr34Ter | |
| ENST00000567683.5:c.102C>G | ENSP00000455126.1:p.Tyr34Ter | |
| NM_024306.4:c.102C>G | NP_077282.3:p.Tyr34Ter | |
| XM_011523317.1:c.102C>G | XP_011521619.1:p.Tyr34Ter | |
| XM_011523318.1:c.102C>G | XP_011521620.1:p.Tyr34Ter | |
| XM_011523317.3:c.102C>G | XP_011521619.1:p.Tyr34Ter | |
| NM_024306.5:c.102C>G MANE Select | NP_077282.3:p.Tyr34Ter |