gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541191A>G , CM000680.2:g.31541191A>G | GRCh38 |
| NC_000018.9:g.29121154A>G , CM000680.1:g.29121154A>G | GRCh37 |
| NC_000018.8:g.27375152A>G | NCBI36 |
| NG_007072.3:g.47950A>G , LRG_397:g.47950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1880-2A>G MANE Select | ENSP00000261590.8:n.1880-2A>G | |
| ENST00000261590.12:c.1880-2A>G | ENSP00000261590.8:n.1880-2A>G | |
| NM_001943.3:c.1880-2A>G , LRG_397t1:c.1880-2A>G | NP_001934.2:n.1880-2A>G | |
| NM_001943.4:c.1880-2A>G | NP_001934.2:n.1880-2A>G | |
| XM_024451095.1:c.1346-2A>G | XP_024306863.1:n.1346-2A>G | |
| NM_001943.5:c.1880-2A>G MANE Select | NP_001934.2:n.1880-2A>G |