gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50955379 (EAS)
Genomes Max Group AF
0.50955379 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88954758C>T , CM000666.2:g.88954758C>T | GRCh38 |
| NC_000004.11:g.89875909C>T , CM000666.1:g.89875909C>T | GRCh37 |
| NC_000004.10:g.90094932C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264344.10:c.606-16517G>A MANE Select | ENSP00000264344.5:n.606-16517G>A | |
| ENST00000264344.9:c.606-16517G>A | ENSP00000264344.5:n.606-16517G>A | |
| ENST00000502459.5:n.1064-16517G>A | ||
| ENST00000509094.5:c.606-16517G>A | ENSP00000426517.1:n.606-16517G>A | |
| ENST00000511976.5:c.-22-16517G>A | ENSP00000421914.1:n.-22-16517G>A | |
| ENST00000512339.5:c.428-16517G>A | ENSP00000423800.1:n.428-16517G>A | |
| NM_014883.3:c.606-16517G>A | NP_055698.2:n.606-16517G>A | |
| XM_005262681.2:c.606-16517G>A | XP_005262738.1:n.606-16517G>A | |
| XM_005262682.2:c.546-16517G>A | XP_005262739.1:n.546-16517G>A | |
| XM_005262683.2:c.606-16517G>A | XP_005262740.1:n.606-16517G>A | |
| XM_005262684.2:c.-22-16517G>A | XP_005262741.1:n.-22-16517G>A | |
| XM_011531516.1:c.606-16517G>A | XP_011529818.1:n.606-16517G>A | |
| XM_011531517.1:c.606-16517G>A | XP_011529819.1:n.606-16517G>A | |
| XM_011531518.1:c.48-16517G>A | XP_011529820.1:n.48-16517G>A | |
| XM_011531519.1:c.48-16517G>A | XP_011529821.1:n.48-16517G>A | |
| XM_011531520.1:c.-22-16517G>A | XP_011529822.1:n.-22-16517G>A | |
| XR_938977.1:n.418-2637C>T | ||
| XR_938978.1:n.272-2637C>T | ||
| XM_005262681.3:c.606-16517G>A | XP_005262738.1:n.606-16517G>A | |
| XM_005262683.3:c.606-16517G>A | XP_005262740.1:n.606-16517G>A | |
| XM_005262684.4:c.-22-16517G>A | XP_005262741.1:n.-22-16517G>A | |
| XM_011531517.2:c.606-16517G>A | XP_011529819.1:n.606-16517G>A | |
| XM_011531519.3:c.48-16517G>A | XP_011529821.1:n.48-16517G>A | |
| XM_017007624.2:c.606-16517G>A | XP_016863113.1:n.606-16517G>A | |
| XM_017007625.1:c.441-16517G>A | XP_016863114.1:n.441-16517G>A | |
| XM_017007626.1:c.75-16517G>A | XP_016863115.1:n.75-16517G>A | |
| XM_017007627.1:c.-22-16517G>A | XP_016863116.1:n.-22-16517G>A | |
| XM_017007628.2:c.-22-16517G>A | XP_016863117.1:n.-22-16517G>A | |
| XM_017007629.2:c.-1985-16517G>A | XP_016863118.1:n.-1985-16517G>A | |
| XM_017007630.2:c.-57-48296G>A | XP_016863119.1:n.-57-48296G>A | |
| XM_017007631.2:c.-1985-16517G>A | XP_016863120.1:n.-1985-16517G>A | |
| XM_017007632.2:c.-57-48296G>A | XP_016863121.1:n.-57-48296G>A | |
| XM_017007633.2:c.-2048-16517G>A | XP_016863122.1:n.-2048-16517G>A | |
| XM_024453870.1:c.606-16517G>A | XP_024309638.1:n.606-16517G>A | |
| XR_001741763.1:n.3707-2637C>T | ||
| XR_938977.2:n.418-2637C>T | ||
| NM_014883.4:c.606-16517G>A MANE Select | NP_055698.2:n.606-16517G>A |