gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58391846 (MID)
Genomes Max Group AF
0.54843613 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98442880C>T , CM000671.2:g.98442880C>T | GRCh38 |
| NC_000009.11:g.101205162C>T , CM000671.1:g.101205162C>T | GRCh37 |
| NC_000009.10:g.100244983C>T | NCBI36 |
| NG_016426.1:g.271318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.1236+11101G>A MANE Select | ENSP00000259455.2:n.1236+11101G>A | |
| ENST00000637410.1:n.1014+11101G>A | ||
| ENST00000259455.3:c.1236+11101G>A | ENSP00000259455.2:n.1236+11101G>A | |
| NM_005458.7:c.1236+11101G>A | NP_005449.5:n.1236+11101G>A | |
| XM_005252316.3:c.462+11101G>A | XP_005252373.1:n.462+11101G>A | |
| XM_005252316.5:c.462+11101G>A | XP_005252373.1:n.462+11101G>A | |
| XM_017015331.2:c.942+11101G>A | XP_016870820.1:n.942+11101G>A | |
| XM_017015332.2:c.462+11101G>A | XP_016870821.1:n.462+11101G>A | |
| NM_005458.8:c.1236+11101G>A MANE Select | NP_005449.5:n.1236+11101G>A |