Linked Data
ClinVar Variation Id:
137329
dbSNP Id:
rs79445561
ExAC:
5:127668592 T / C
gnomAD v2:
5-127668592-T-C
gnomAD v3:
5-128332900-T-C
gnomAD v4:
5-128332900-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332900T>C , CM000667.2:g.128332900T>C | GRCh38 |
| NC_000005.9:g.127668592T>C , CM000667.1:g.127668592T>C | GRCh37 |
| NC_000005.8:g.127696491T>C | NCBI36 |
| NG_008750.1:g.210144A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1006+12A>G | ||
| ENST00000703785.1:n.1087+12A>G | ||
| ENST00000262464.9:c.4222+12A>G MANE Select | ENSP00000262464.4:n.4222+12A>G | |
| ENST00000262464.8:c.4222+12A>G | ENSP00000262464.4:n.4222+12A>G | |
| ENST00000507835.5:c.772+12A>G | ENSP00000426839.1:n.772+12A>G | |
| ENST00000508053.5:c.4222+12A>G | ENSP00000424571.1:n.4222+12A>G | |
| ENST00000508989.5:c.4123+12A>G | ENSP00000425596.1:n.4123+12A>G | |
| ENST00000619499.4:c.4219+12A>G | ENSP00000482132.1:n.4219+12A>G | |
| NM_001999.3:c.4222+12A>G | NP_001990.2:n.4222+12A>G | |
| XM_017009228.2:c.4069+12A>G | XP_016864717.1:n.4069+12A>G | |
| NM_001999.4:c.4222+12A>G MANE Select | NP_001990.2:n.4222+12A>G |