Linked Data
dbSNP Id:
rs1303419483
gnomAD v2:
5-40790505-A-C
gnomAD v3:
5-40790403-A-C
gnomAD v4:
5-40790403-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40790403A>C , CM000667.2:g.40790403A>C | GRCh38 |
| NC_000005.9:g.40790505A>C , CM000667.1:g.40790505A>C | GRCh37 |
| NC_000005.8:g.40826262A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397128.7:c.127+7660T>G MANE Select | ENSP00000380317.2:n.127+7660T>G | |
| ENST00000296800.4:c.100+7660T>G | ENSP00000296800.4:n.100+7660T>G | |
| ENST00000354209.7:c.127+7660T>G | ENSP00000346148.3:n.127+7660T>G | |
| ENST00000397006.2:n.108+7660T>G | ||
| ENST00000397128.6:c.127+7660T>G | ENSP00000380317.2:n.127+7660T>G | |
| ENST00000506652.5:n.86+7660T>G | ||
| ENST00000509874.5:n.127+7660T>G | ||
| ENST00000511248.1:n.97+7660T>G | ||
| NM_006251.5:c.127+7660T>G | NP_006242.5:n.127+7660T>G | |
| NM_206907.3:c.127+7660T>G | NP_996790.3:n.127+7660T>G | |
| XM_006714482.1:c.-560+7660T>G | XP_006714545.1:n.-560+7660T>G | |
| NM_001355028.1:c.-258+7660T>G | NP_001341957.1:n.-258+7660T>G | |
| NM_001355029.1:c.-212+7660T>G | NP_001341958.1:n.-212+7660T>G | |
| NM_001355034.1:c.127+7660T>G | NP_001341963.1:n.127+7660T>G | |
| NM_001355035.1:c.-560+7660T>G | NP_001341964.1:n.-560+7660T>G | |
| NM_001355036.1:c.-495+7660T>G | NP_001341965.1:n.-495+7660T>G | |
| NM_001355037.1:c.-605+7660T>G | NP_001341966.1:n.-605+7660T>G | |
| NM_001355028.2:c.-258+7660T>G | NP_001341957.1:n.-258+7660T>G | |
| NM_001355029.2:c.-212+7660T>G | NP_001341958.1:n.-212+7660T>G | |
| NM_001355035.2:c.-560+7660T>G | NP_001341964.1:n.-560+7660T>G | |
| NM_001355036.2:c.-495+7660T>G | NP_001341965.1:n.-495+7660T>G | |
| NM_001355037.2:c.-605+7660T>G | NP_001341966.1:n.-605+7660T>G | |
| NM_001355034.2:c.127+7660T>G | NP_001341963.1:n.127+7660T>G | |
| NM_006251.6:c.127+7660T>G MANE Select | NP_006242.5:n.127+7660T>G | |
| NM_206907.4:c.127+7660T>G | NP_996790.3:n.127+7660T>G |