Linked Data
ClinVar Variation Id:
213412
dbSNP Id:
rs139830237
ExAC:
5:127648338 G / C
gnomAD v2:
5-127648338-G-C
gnomAD v3:
5-128312646-G-C
gnomAD v4:
5-128312646-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128312646G>C , CM000667.2:g.128312646G>C | GRCh38 |
| NC_000005.9:g.127648338G>C , CM000667.1:g.127648338G>C | GRCh37 |
| NC_000005.8:g.127676237G>C | NCBI36 |
| NG_008750.1:g.230398C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1651C>G | ||
| ENST00000703785.1:n.1583-693C>G | ||
| ENST00000262464.9:c.4867C>G MANE Select | ENSP00000262464.4:p.Pro1623Ala | |
| ENST00000262464.8:c.4867C>G | ENSP00000262464.4:p.Pro1623Ala | |
| ENST00000508053.5:c.4867C>G | ENSP00000424571.1:p.Pro1623Ala | |
| ENST00000619499.4:c.4864C>G | ENSP00000482132.1:p.Pro1622Ala | |
| NM_001999.3:c.4867C>G | NP_001990.2:p.Pro1623Ala | |
| XM_017009228.2:c.4714C>G | XP_016864717.1:p.Pro1572Ala | |
| NM_001999.4:c.4867C>G MANE Select | NP_001990.2:p.Pro1623Ala |