Linked Data
dbSNP Id:
rs17823642
gnomAD v2:
5-78341297-C-T
gnomAD v3:
5-79045474-C-T
gnomAD v4:
5-79045474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79045474C>T , CM000667.2:g.79045474C>T | GRCh38 |
| NC_000005.9:g.78341297C>T , CM000667.1:g.78341297C>T | GRCh37 |
| NC_000005.8:g.78377053C>T | NCBI36 |
| NG_012164.1:g.29153G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255189.8:c.746-922G>A MANE Select | ENSP00000255189.3:n.746-922G>A | |
| ENST00000255189.7:c.746-922G>A | ENSP00000255189.3:n.746-922G>A | |
| ENST00000517853.5:c.277-12066G>A | ENSP00000428995.1:n.277-12066G>A | |
| ENST00000518477.5:c.277-922G>A | ENSP00000427834.1:n.277-922G>A | |
| ENST00000521052.5:c.*44-922G>A | ENSP00000430133.1:n.*44-922G>A | |
| ENST00000523732.1:c.263-922G>A | ENSP00000430972.1:n.263-922G>A | |
| NM_013391.3:c.746-922G>A MANE Select | NP_037523.2:n.746-922G>A | |
| NR_104002.1:n.331-922G>A | ||
| NR_104003.1:n.331-12066G>A | ||
| XM_006714597.1:c.746-922G>A | XP_006714660.1:n.746-922G>A | |
| XM_011543354.1:c.746-922G>A | XP_011541656.1:n.746-922G>A | |
| XM_011543355.1:c.746-922G>A | XP_011541657.1:n.746-922G>A | |
| XM_006714597.2:c.746-922G>A | XP_006714660.1:n.746-922G>A | |
| XM_011543355.2:c.746-922G>A | XP_011541657.1:n.746-922G>A | |
| NR_104002.2:n.331-922G>A | ||
| NR_104003.2:n.331-12066G>A | ||
| NR_104002.3:n.331-922G>A | ||
| NR_104003.3:n.331-12066G>A |