Linked Data
ClinVar Variation Id:
509478
ClinVar RCV Id:
RCV000616823
dbSNP Id:
rs1554035707
gnomAD v4:
5-79033231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79033231T>C , CM000667.2:g.79033231T>C | GRCh38 |
| NC_000005.9:g.78329054T>C , CM000667.1:g.78329054T>C | GRCh37 |
| NC_000005.8:g.78364810T>C | NCBI36 |
| NG_012164.1:g.41396A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.1363+8A>G MANE Select | ENSP00000255189.3:n.1363+8A>G | |
| ENST00000255189.7:c.1363+8A>G | ENSP00000255189.3:n.1363+8A>G | |
| ENST00000517853.5:c.*125+8A>G | ENSP00000428995.1:n.*125+8A>G | |
| ENST00000518477.5:c.*597+8A>G | ENSP00000427834.1:n.*597+8A>G | |
| ENST00000523732.1:c.880+8A>G | ENSP00000430972.1:n.880+8A>G | |
| NM_013391.3:c.1363+8A>G MANE Select | NP_037523.2:n.1363+8A>G | |
| NR_104002.1:n.948+8A>G | ||
| NR_104003.1:n.500+8A>G | ||
| XM_006714597.1:c.1363+8A>G | XP_006714660.1:n.1363+8A>G | |
| XM_011543354.1:c.1363+8A>G | XP_011541656.1:n.1363+8A>G | |
| XM_011543355.1:c.1363+8A>G | XP_011541657.1:n.1363+8A>G | |
| XM_006714597.2:c.1363+8A>G | XP_006714660.1:n.1363+8A>G | |
| XM_011543355.2:c.1363+8A>G | XP_011541657.1:n.1363+8A>G | |
| NR_104002.2:n.948+8A>G | ||
| NR_104003.2:n.500+8A>G | ||
| NR_104002.3:n.948+8A>G | ||
| NR_104003.3:n.500+8A>G |