gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16863407 (AFR)
Genomes Max Group AF
0.16863407 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.76998682A>C , CM000680.2:g.76998682A>C | GRCh38 |
| NC_000018.9:g.74710638A>C , CM000680.1:g.74710638A>C | GRCh37 |
| NC_000018.8:g.72839626A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355994.7:c.577-8622T>G MANE Select | ENSP00000348273.2:n.577-8622T>G | |
| ENST00000673800.1:n.553-8622T>G | ||
| ENST00000354542.4:c.177+18150T>G | ENSP00000346545.4:n.177+18150T>G | |
| ENST00000355994.6:c.577-8622T>G | ENSP00000348273.2:n.577-8622T>G | |
| ENST00000359645.7:c.256-8622T>G | ENSP00000352667.3:n.256-8622T>G | |
| ENST00000382582.7:c.256-8622T>G | ENSP00000372025.3:n.256-8622T>G | |
| ENST00000397865.9:c.178-8622T>G | ENSP00000380963.5:n.178-8622T>G | |
| ENST00000397866.8:c.178-8622T>G | ENSP00000380964.4:n.178-8622T>G | |
| ENST00000397868.6:n.225-8622T>G | ||
| ENST00000397869.7:c.178-8622T>G | ENSP00000380967.3:n.178-8622T>G | |
| ENST00000397875.7:c.178-8622T>G | ENSP00000380973.3:n.178-8622T>G | |
| ENST00000447114.5:c.10-8622T>G | ENSP00000405882.1:n.10-8622T>G | |
| ENST00000459948.1:c.178-8622T>G | ENSP00000435322.1:n.178-8622T>G | |
| ENST00000467108.1:n.228-8622T>G | ||
| ENST00000473302.5:c.178-8622T>G | ENSP00000432988.1:n.178-8622T>G | |
| ENST00000482445.5:n.225-8622T>G | ||
| ENST00000483025.5:c.178-7768T>G | ENSP00000442393.1:n.178-7768T>G | |
| ENST00000484548.6:n.212-8622T>G | ||
| ENST00000493623.5:c.178-8622T>G | ENSP00000436951.1:n.178-8622T>G | |
| ENST00000498683.2:c.178-8622T>G | ENSP00000437063.1:n.178-8622T>G | |
| ENST00000526111.5:c.112-8622T>G | ENSP00000435641.1:n.112-8622T>G | |
| ENST00000527041.1:c.178-8622T>G | ENSP00000435243.1:n.178-8622T>G | |
| ENST00000527975.5:c.96-8692T>G | ENSP00000431267.1:n.96-8692T>G | |
| ENST00000528160.1:c.96-13881T>G | ENSP00000436830.1:n.96-13881T>G | |
| ENST00000531144.5:c.96-8622T>G | ENSP00000431335.1:n.96-8622T>G | |
| ENST00000533278.5:c.111-8622T>G | ENSP00000434011.1:n.111-8622T>G | |
| ENST00000577755.5:c.170-10162T>G | ||
| ENST00000578193.5:c.178-8622T>G | ENSP00000463403.1:n.178-8622T>G | |
| ENST00000578873.5:c.256-8622T>G | ENSP00000463137.1:n.256-8622T>G | |
| ENST00000579129.5:c.577-8622T>G | ENSP00000463780.1:n.577-8622T>G | |
| ENST00000580402.5:c.577-8622T>G | ENSP00000462223.1:n.577-8622T>G | |
| ENST00000580473.5:n.326-8622T>G | ||
| ENST00000581179.5:n.303-8622T>G | ||
| ENST00000582282.5:n.221-8622T>G | ||
| ENST00000583118.5:n.53-8622T>G | ||
| ENST00000583474.5:c.96-8622T>G | ENSP00000462758.1:n.96-8622T>G | |
| ENST00000585216.5:n.225-8622T>G | ||
| NM_001025081.1:c.256-8622T>G | NP_001020252.1:n.256-8622T>G | |
| NM_001025090.1:c.178-8622T>G | NP_001020261.1:n.178-8622T>G | |
| NM_001025092.1:c.178-8622T>G | NP_001020263.1:n.178-8622T>G | |
| NM_001025101.1:c.577-8622T>G | NP_001020272.1:n.577-8622T>G | |
| NM_002385.2:c.256-8622T>G | NP_002376.1:n.256-8622T>G | |
| XM_011526008.1:c.577-8622T>G | XP_011524310.1:n.577-8622T>G | |
| XM_011526009.1:c.577-8622T>G | XP_011524311.1:n.577-8622T>G | |
| XM_011526010.1:c.577-8622T>G | XP_011524312.1:n.577-8622T>G | |
| XM_011526011.1:c.577-8622T>G | XP_011524313.1:n.577-8622T>G | |
| XR_245460.2:n.836-8622T>G | ||
| XR_245461.2:n.836-8622T>G | ||
| XM_024451185.1:c.655-8622T>G | XP_024306953.1:n.655-8622T>G | |
| XM_024451186.1:c.655-8622T>G | XP_024306954.1:n.655-8622T>G | |
| XM_024451187.1:c.655-8622T>G | XP_024306955.1:n.655-8622T>G | |
| XM_024451188.1:c.256-8622T>G | XP_024306956.1:n.256-8622T>G | |
| XR_001753201.1:n.509-8622T>G | ||
| XR_001753202.1:n.509-8622T>G | ||
| NM_001025101.2:c.577-8622T>G MANE Select | NP_001020272.1:n.577-8622T>G | |
| NM_001025081.2:c.256-8622T>G | NP_001020252.1:n.256-8622T>G | |
| NM_001025090.2:c.178-8622T>G | NP_001020261.1:n.178-8622T>G | |
| NM_001025092.2:c.178-8622T>G | NP_001020263.1:n.178-8622T>G | |
| NM_002385.3:c.256-8622T>G | NP_002376.1:n.256-8622T>G |