gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62361422A>G , CM000680.2:g.62361422A>G | GRCh38 |
| NC_000018.9:g.60028655A>G , CM000680.1:g.60028655A>G | GRCh37 |
| NC_000018.8:g.58179635A>G | NCBI36 |
| NG_008098.1:g.41108A>G , LRG_194:g.41108A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586569.3:c.617-258A>G MANE Select | ENSP00000465500.1:n.617-258A>G | |
| ENST00000639222.1:c.617-258A>G | ENSP00000492422.1:n.617-258A>G | |
| ENST00000269485.11:c.616+1373A>G | ENSP00000269485.7:n.616+1373A>G | |
| ENST00000586569.2:c.617-258A>G | ENSP00000465500.1:n.617-258A>G | |
| ENST00000616710.4:c.617-258A>G | ENSP00000479567.1:n.617-258A>G | |
| ENST00000617039.4:c.617-258A>G | ENSP00000482466.1:n.617-258A>G | |
| NM_001270949.1:c.617-258A>G | NP_001257878.1:n.617-258A>G | |
| NM_001270950.1:c.617-258A>G | NP_001257879.1:n.617-258A>G | |
| NM_001270951.1:c.616+1373A>G | NP_001257880.1:n.616+1373A>G | |
| NM_001278268.1:c.575-258A>G | NP_001265197.1:n.575-258A>G | |
| NM_003839.3:c.617-258A>G | NP_003830.1:n.617-258A>G | |
| XM_011526244.1:c.632-258A>G | XP_011524546.1:n.632-258A>G | |
| XM_011526245.1:c.509-258A>G | XP_011524547.1:n.509-258A>G | |
| XR_935263.1:n.647-258A>G | ||
| XM_011526244.2:c.632-258A>G | XP_011524546.1:n.632-258A>G | |
| XM_011526245.2:c.509-258A>G | XP_011524547.1:n.509-258A>G | |
| XM_017026064.1:c.509-258A>G | XP_016881553.1:n.509-258A>G | |
| XM_017026065.1:c.467-258A>G | XP_016881554.1:n.467-258A>G | |
| XM_017026066.1:c.407-258A>G | XP_016881555.1:n.407-258A>G | |
| NM_003839.4:c.617-258A>G MANE Select | NP_003830.1:n.617-258A>G | |
| NM_001270951.2:c.616+1373A>G | NP_001257880.1:n.616+1373A>G | |
| NM_001278268.2:c.575-258A>G | NP_001265197.1:n.575-258A>G | |
| NM_001270949.2:c.617-258A>G | NP_001257878.1:n.617-258A>G | |
| NM_001270950.2:c.617-258A>G | NP_001257879.1:n.617-258A>G |