gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11140579 (AFR)
Genomes Max Group AF
0.11140579 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14280030T>G , CM000667.2:g.14280030T>G | GRCh38 |
| NC_000005.9:g.14280139T>G , CM000667.1:g.14280139T>G | GRCh37 |
| NC_000005.8:g.14333139T>G | NCBI36 |
| NG_052962.1:g.141329T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698541.1:c.233-292T>G | ENSP00000513786.1:n.233-292T>G | |
| ENST00000704488.1:c.104-292T>G | ENSP00000515916.1:n.104-292T>G | |
| ENST00000344204.9:c.233-292T>G MANE Select | ENSP00000339299.4:n.233-292T>G | |
| ENST00000344204.8:c.233-292T>G | ENSP00000339299.4:n.233-292T>G | |
| ENST00000502816.1:n.257-292T>G | ||
| ENST00000505971.5:n.257-292T>G | ||
| ENST00000509967.6:c.86-292T>G | ENSP00000445592.1:n.86-292T>G | |
| ENST00000512070.6:c.56-292T>G | ENSP00000421555.2:n.56-292T>G | |
| NM_007118.2:c.233-292T>G | NP_009049.2:n.233-292T>G | |
| XM_011514107.1:c.170-292T>G | XP_011512409.1:n.170-292T>G | |
| XM_011514108.1:c.116-292T>G | XP_011512410.1:n.116-292T>G | |
| XM_011514109.1:c.86-292T>G | XP_011512411.1:n.86-292T>G | |
| XM_011514110.1:c.56-292T>G | XP_011512412.1:n.56-292T>G | |
| XM_011514111.1:c.56-292T>G | XP_011512413.1:n.56-292T>G | |
| XM_011514113.1:c.233-292T>G | XP_011512415.1:n.233-292T>G | |
| XR_241714.1:n.251-292T>G | ||
| NM_007118.3:c.233-292T>G | NP_009049.2:n.233-292T>G | |
| NR_134469.1:n.257-292T>G | ||
| XM_011514107.2:c.170-292T>G | XP_011512409.1:n.170-292T>G | |
| XM_011514109.3:c.86-292T>G | XP_011512411.1:n.86-292T>G | |
| XM_011514110.3:c.56-292T>G | XP_011512412.1:n.56-292T>G | |
| XM_017009801.1:c.233-292T>G | XP_016865290.1:n.233-292T>G | |
| XM_017009802.1:c.233-292T>G | XP_016865291.1:n.233-292T>G | |
| XR_001742236.2:n.609-292T>G | ||
| NM_007118.4:c.233-292T>G MANE Select | NP_009049.2:n.233-292T>G | |
| NR_134469.2:n.617-292T>G |