gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07741219 (NFE)
Genomes Max Group AF
0.07741219 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16913746G>A , CM000667.2:g.16913746G>A | GRCh38 |
| NC_000005.9:g.16913855G>A , CM000667.1:g.16913855G>A | GRCh37 |
| NC_000005.8:g.16966855G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513610.6:c.21+22042C>T MANE Select | ENSP00000421280.1:n.21+22042C>T | |
| ENST00000274203.13:c.21+22042C>T | ENSP00000274203.10:n.21+22042C>T | |
| ENST00000502436.5:c.21+22042C>T | ENSP00000426783.2:n.21+22042C>T | |
| ENST00000507288.1:c.21+22042C>T | ENSP00000426664.1:n.21+22042C>T | |
| ENST00000513610.5:c.21+22042C>T | ENSP00000421280.1:n.21+22042C>T | |
| ENST00000513882.5:c.54+2309C>T | ENSP00000421309.1:n.54+2309C>T | |
| NM_012334.2:c.21+22042C>T | NP_036466.2:n.21+22042C>T | |
| XM_006714475.1:c.21+22042C>T | XP_006714538.1:n.21+22042C>T | |
| XM_006714475.3:c.21+22042C>T | XP_006714538.1:n.21+22042C>T | |
| NM_012334.3:c.21+22042C>T MANE Select | NP_036466.2:n.21+22042C>T |