Linked Data
ClinVar Variation Id:
501347
dbSNP Id:
rs904520404
gnomAD v3:
6-24302010-G-C
gnomAD v4:
6-24302010-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302010G>C , CM000668.2:g.24302010G>C | GRCh38 |
| NC_000006.11:g.24302238G>C , CM000668.1:g.24302238G>C | GRCh37 |
| NC_000006.10:g.24410217G>C | NCBI36 |
| NG_012829.1:g.61043C>G | |
| NG_012829.2:g.86283C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.383C>G MANE Select | ENSP00000367715.3:p.Ser128Ter | |
| ENST00000378454.7:c.383C>G | ENSP00000367715.3:p.Ser128Ter | |
| NM_001195610.1:c.383C>G | NP_001182539.1:p.Ser128Ter | |
| NM_016356.4:c.383C>G | NP_057440.2:p.Ser128Ter | |
| NM_016356.5:c.383C>G MANE Select | NP_057440.2:p.Ser128Ter | |
| NM_001195610.2:c.383C>G | NP_001182539.1:p.Ser128Ter |