gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86152909 (NFE)
Genomes Max Group AF
0.86152909 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75571007T>G , CM000673.2:g.75571007T>G | GRCh38 |
| NC_000011.9:g.75282052T>G , CM000673.1:g.75282052T>G | GRCh37 |
| NC_000011.8:g.74959700T>G | NCBI36 |
| NG_012052.1:g.13883T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358171.8:c.955-774T>G MANE Select | ENSP00000350894.4:n.955-774T>G | |
| ENST00000533449.6:c.955-774T>G | ENSP00000431827.2:n.955-774T>G | |
| ENST00000649490.1:c.*1605+210T>G | ENSP00000497544.1:n.*1605+210T>G | |
| ENST00000358171.7:c.955-774T>G | ENSP00000350894.3:n.955-774T>G | |
| ENST00000524558.5:c.955-774T>G | ENSP00000434412.1:n.955-774T>G | |
| ENST00000525876.1:c.304-774T>G | ENSP00000433532.1:n.304-774T>G | |
| ENST00000533603.5:c.955-774T>G | ENSP00000434657.1:n.955-774T>G | |
| NM_001207014.1:c.955-774T>G | NP_001193943.1:n.955-774T>G | |
| NM_001235.3:c.955-774T>G | NP_001226.2:n.955-774T>G | |
| XM_006718729.1:c.955-774T>G | XP_006718792.1:n.955-774T>G | |
| XM_011545326.1:c.955-774T>G | XP_011543628.1:n.955-774T>G | |
| XM_011545327.1:c.955-774T>G | XP_011543629.1:n.955-774T>G | |
| XM_024448756.1:c.955-774T>G | XP_024304524.1:n.955-774T>G | |
| NM_001207014.2:c.955-774T>G | NP_001193943.1:n.955-774T>G | |
| NM_001235.5:c.955-774T>G MANE Select | NP_001226.2:n.955-774T>G | |
| NM_001207014.3:c.955-774T>G | NP_001193943.1:n.955-774T>G |