gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67098077 (NFE)
Genomes Max Group AF
0.67100053 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55827882A>G , CM000678.2:g.55827882A>G | GRCh38 |
| NC_000016.9:g.55861794A>G , CM000678.1:g.55861794A>G | GRCh37 |
| NC_000016.8:g.54419295A>G | NCBI36 |
| NG_012057.1:g.10282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360526.8:c.260+885T>C MANE Select | ENSP00000353720.4:n.260+885T>C | |
| ENST00000360526.7:c.260+885T>C | ENSP00000353720.3:n.260+885T>C | |
| ENST00000361503.8:c.257+885T>C | ENSP00000355193.4:n.257+885T>C | |
| ENST00000422046.6:c.257+885T>C | ENSP00000390492.2:n.257+885T>C | |
| ENST00000563005.5:n.94-1587T>C | ||
| ENST00000565403.5:n.102-4199T>C | ||
| ENST00000566555.1:n.287+7T>C | ||
| NM_001025194.1:c.257+885T>C | NP_001020365.1:n.257+885T>C | |
| NM_001025195.1:c.260+885T>C | NP_001020366.1:n.260+885T>C | |
| NM_001266.4:c.257+885T>C | NP_001257.4:n.257+885T>C | |
| XM_005255774.1:c.260+885T>C | XP_005255831.1:n.260+885T>C | |
| XM_011522816.1:c.260+885T>C | XP_011521118.1:n.260+885T>C | |
| XM_005255774.2:c.260+885T>C | XP_005255831.1:n.260+885T>C | |
| NM_001025194.2:c.257+885T>C | NP_001020365.1:n.257+885T>C | |
| NM_001025195.2:c.260+885T>C MANE Select | NP_001020366.1:n.260+885T>C | |
| NM_001266.5:c.257+885T>C | NP_001257.4:n.257+885T>C |