ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01596321 (AFR)
Genomes Max Group AF
0.01596321 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72648871G>T , CM000671.2:g.72648871G>T | GRCh38 |
| NC_000009.11:g.75263787G>T , CM000671.1:g.75263787G>T | GRCh37 |
| NC_000009.10:g.74453607G>T | NCBI36 |
| NG_008213.1:g.132071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.16+207G>T MANE Select | ENSP00000297784.6:n.16+207G>T | |
| ENST00000644967.1:c.-297+20808G>T | ENSP00000496159.1:n.-297+20808G>T | |
| ENST00000645053.1:c.-297+20808G>T | ENSP00000493838.1:n.-297+20808G>T | |
| ENST00000645208.2:c.16+207G>T | ENSP00000494684.1:n.16+207G>T | |
| ENST00000645773.1:c.16+207G>T | ENSP00000493698.1:n.16+207G>T | |
| ENST00000645787.1:n.44+20808G>T | ||
| ENST00000646244.1:n.466+20808G>T | ||
| ENST00000646619.1:c.-297+20808G>T | ENSP00000493726.1:n.-297+20808G>T | |
| ENST00000650689.1:n.440+20808G>T | ||
| ENST00000651183.1:c.-297+32394G>T | ENSP00000498723.1:n.-297+32394G>T | |
| ENST00000651743.1:n.558+207G>T | ||
| ENST00000297784.9:c.16+207G>T | ENSP00000297784.5:n.16+207G>T | |
| ENST00000340019.4:c.16+207G>T | ENSP00000341433.3:n.16+207G>T | |
| ENST00000492418.1:n.107+207G>T | ||
| NM_138691.2:c.16+207G>T | NP_619636.2:n.16+207G>T | |
| XM_011518213.1:c.604+20808G>T | XP_011516515.1:n.604+20808G>T | |
| XM_017014256.1:c.19+32394G>T | XP_016869745.1:n.19+32394G>T | |
| NM_138691.3:c.16+207G>T MANE Select | NP_619636.2:n.16+207G>T |