Linked Data
ClinVar Variation Id:
213368
dbSNP Id:
rs754837805
ExAC:
5:127597606 G / C
gnomAD v2:
5-127597606-G-C
gnomAD v3:
5-128261914-G-C
gnomAD v4:
5-128261914-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261914G>C , CM000667.2:g.128261914G>C | GRCh38 |
| NC_000005.9:g.127597606G>C , CM000667.1:g.127597606G>C | GRCh37 |
| NC_000005.8:g.127625505G>C | NCBI36 |
| NG_008750.1:g.281130C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8193-7C>G MANE Select | ENSP00000262464.4:n.8193-7C>G | |
| ENST00000262464.8:c.8193-7C>G | ENSP00000262464.4:n.8193-7C>G | |
| ENST00000508053.5:c.8193-7C>G | ENSP00000424571.1:n.8193-7C>G | |
| ENST00000619499.4:c.8190-7C>G | ENSP00000482132.1:n.8190-7C>G | |
| NM_001999.3:c.8193-7C>G | NP_001990.2:n.8193-7C>G | |
| XM_017009228.2:c.8040-7C>G | XP_016864717.1:n.8040-7C>G | |
| NM_001999.4:c.8193-7C>G MANE Select | NP_001990.2:n.8193-7C>G |