Linked Data
ClinVar Variation Id:
263631
ClinVar RCV Id:
RCV000244735
dbSNP Id:
rs759481427
ExAC:
5:127670877 T / C
gnomAD v2:
5-127670877-T-C
gnomAD v3:
5-128335185-T-C
gnomAD v4:
5-128335185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335185T>C , CM000667.2:g.128335185T>C | GRCh38 |
| NC_000005.9:g.127670877T>C , CM000667.1:g.127670877T>C | GRCh37 |
| NC_000005.8:g.127698776T>C | NCBI36 |
| NG_008750.1:g.207859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.742A>G | ||
| ENST00000703785.1:n.823A>G | ||
| ENST00000262464.9:c.3958A>G MANE Select | ENSP00000262464.4:p.Met1320Val | |
| ENST00000262464.8:c.3958A>G | ENSP00000262464.4:p.Met1320Val | |
| ENST00000507835.5:c.508A>G | ENSP00000426839.1:p.Met170Val | |
| ENST00000508053.5:c.3958A>G | ENSP00000424571.1:p.Met1320Val | |
| ENST00000508989.5:c.3859A>G | ENSP00000425596.1:p.Met1287Val | |
| ENST00000619499.4:c.3955A>G | ENSP00000482132.1:p.Met1319Val | |
| NM_001999.3:c.3958A>G | NP_001990.2:p.Met1320Val | |
| XM_017009228.2:c.3805A>G | XP_016864717.1:p.Met1269Val | |
| NM_001999.4:c.3958A>G MANE Select | NP_001990.2:p.Met1320Val |