MyVariant.info:
GRCh38
chr19:g.54420809C>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15329988 (AFR)
Genomes Max Group AF
0.15363705 (AFR)
Exomes Max Group AF
0.09134178 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54420809C>G , CM000681.2:g.54420809C>G | GRCh38 |
| NC_000019.8:g.59623795C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376530.8:c.306-468C>G MANE Select | ENSP00000365713.3:n.306-468C>G | |
| ENST00000301194.8:c.306-468C>G | ENSP00000301194.4:n.306-468C>G | |
| ENST00000376530.7:c.306-468C>G | ENSP00000365713.3:n.306-468C>G | |
| ENST00000376531.3:c.306-468C>G | ENSP00000365714.3:n.306-468C>G | |
| ENST00000391739.7:c.348-468C>G | ||
| ENST00000423529.5:c.294-468C>G | ENSP00000391282.1:n.294-468C>G | |
| ENST00000425969.5:c.306-1381C>G | ENSP00000402817.1:n.306-1381C>G | |
| ENST00000445095.5:c.453-468C>G | ENSP00000393592.1:n.453-468C>G | |
| ENST00000461302.5:n.142C>G | ||
| ENST00000462757.5:n.348-468C>G | ||
| ENST00000476757.5:n.103+8C>G | ||
| ENST00000478036.1:n.500-468C>G | ||
| ENST00000487134.5:n.1216-468C>G | ||
| NM_001005367.2:c.306-468C>G | NP_001005367.1:n.306-468C>G | |
| NM_001201461.1:c.306-468C>G | NP_001188390.1:n.306-468C>G | |
| NM_020659.3:c.306-468C>G | NP_065710.1:n.306-468C>G | |
| XM_006723296.2:c.306-468C>G | XP_006723359.1:n.306-468C>G | |
| XM_011527147.1:c.51-468C>G | XP_011525449.1:n.51-468C>G | |
| XM_017027025.1:c.51-468C>G | XP_016882514.1:n.51-468C>G | |
| XM_017027026.1:c.51-468C>G | XP_016882515.1:n.51-468C>G | |
| XR_002958337.1:n.391-468C>G | ||
| NM_001005367.3:c.306-468C>G | NP_001005367.1:n.306-468C>G | |
| NM_001201461.2:c.306-468C>G | NP_001188390.1:n.306-468C>G | |
| NM_020659.4:c.306-468C>G MANE Select | NP_065710.1:n.306-468C>G |