gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000425 (AFR)
Genomes Max Group AF
0.00005006 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127313T>A , CM000684.2:g.42127313T>A | GRCh38 |
| NC_000022.10:g.42523315T>A , CM000684.1:g.42523315T>A | GRCh37 |
| NC_000022.9:g.40853259T>A | NCBI36 |
| NG_008376.3:g.7679A>T | |
| NG_008376.4:g.8498A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.971+134A>T | ENSP00000353241.6:n.971+134A>T | |
| ENST00000645361.2:c.1173+134A>T MANE Select | ENSP00000496150.1:n.1173+134A>T | |
| ENST00000359033.4:c.1020+134A>T | ENSP00000351927.4:n.1020+134A>T | |
| ENST00000360124.9:c.791+134A>T | ENSP00000353241.5:n.791+134A>T | |
| ENST00000360608.9:c.1173+134A>T | ENSP00000353820.5:n.1173+134A>T | |
| ENST00000389970.7:c.1164+134A>T | ENSP00000374620.4:n.1164+134A>T | |
| ENST00000488442.1:n.1897+134A>T | ||
| NM_000106.5:c.1173+134A>T | NP_000097.3:n.1173+134A>T | |
| NM_001025161.2:c.1020+134A>T | NP_001020332.2:n.1020+134A>T | |
| XM_011529966.1:c.1173+134A>T | XP_011528268.1:n.1173+134A>T | |
| XM_011529967.1:c.1173+134A>T | XP_011528269.1:n.1173+134A>T | |
| XM_011529968.1:c.1173+134A>T | XP_011528270.1:n.1173+134A>T | |
| XM_011529969.1:c.1029+134A>T | XP_011528271.1:n.1029+134A>T | |
| XM_011529970.1:c.1020+134A>T | XP_011528272.1:n.1020+134A>T | |
| XM_011529971.1:c.1029+134A>T | XP_011528273.1:n.1029+134A>T | |
| NM_000106.6:c.1173+134A>T MANE Select | NP_000097.3:n.1173+134A>T | |
| NM_001025161.3:c.1020+134A>T | NP_001020332.2:n.1020+134A>T |