Linked Data
ClinVar Variation Id:
391580
dbSNP Id:
rs369360559
ExAC:
6:75898219 G / C
gnomAD v2:
6-75898219-G-C
gnomAD v3:
6-75188503-G-C
gnomAD v4:
6-75188503-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75188503G>C , CM000668.2:g.75188503G>C | GRCh38 |
| NC_000006.11:g.75898219G>C , CM000668.1:g.75898219G>C | GRCh37 |
| NC_000006.10:g.75954939G>C | NCBI36 |
| NG_042181.1:g.22405C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.856C>G MANE Select | ENSP00000325146.8:p.Gln286Glu | |
| ENST00000322507.12:c.856C>G | ENSP00000325146.8:p.Gln286Glu | |
| ENST00000345356.10:c.73+14217C>G | ENSP00000305147.9:n.73+14217C>G | |
| ENST00000416123.6:c.856C>G | ENSP00000412864.2:p.Gln286Glu | |
| ENST00000483888.6:c.856C>G | ENSP00000421216.1:p.Gln286Glu | |
| ENST00000615798.4:c.-2712C>G | ENSP00000483232.1:n.-2712C>G | |
| NM_004370.5:c.856C>G | NP_004361.3:p.Gln286Glu | |
| NM_080645.2:c.73+14217C>G | NP_542376.2:n.73+14217C>G | |
| XM_011535434.1:c.856C>G | XP_011533736.1:p.Gln286Glu | |
| XM_011535435.1:c.856C>G | XP_011533737.1:p.Gln286Glu | |
| XM_011535436.1:c.73+14217C>G | XP_011533738.1:n.73+14217C>G | |
| XM_011535436.2:c.73+14217C>G | XP_011533738.1:n.73+14217C>G | |
| XM_017010252.2:c.820C>G | XP_016865741.1:p.Gln274Glu | |
| NM_004370.6:c.856C>G MANE Select | NP_004361.3:p.Gln286Glu | |
| NM_080645.3:c.73+14217C>G | NP_542376.2:n.73+14217C>G |