Linked Data
dbSNP Id:
rs953901444
gnomAD v2:
20-5949467-A-G
gnomAD v3:
20-5968821-A-G
gnomAD v4:
20-5968821-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5968821A>G , CM000682.2:g.5968821A>G | GRCh38 |
| NC_000020.10:g.5949467A>G , CM000682.1:g.5949467A>G | GRCh37 |
| NC_000020.9:g.5897467A>G | NCBI36 |
| NG_042869.1:g.23170A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652720.1:c.1223+796A>G | ENSP00000498784.1:n.1223+796A>G | |
| ENST00000265187.4:c.1175+796A>G | ENSP00000265187.4:n.1175+796A>G | |
| ENST00000378883.5:c.1223+796A>G | ENSP00000368161.1:n.1223+796A>G | |
| ENST00000378886.6:c.1223+796A>G | ENSP00000368164.2:n.1223+796A>G | |
| ENST00000378896.7:c.1223+796A>G | ENSP00000368174.3:n.1223+796A>G | |
| ENST00000610722.4:c.1223+796A>G MANE Select | ENSP00000478141.1:n.1223+796A>G | |
| NM_001281520.1:c.1223+796A>G | NP_001268449.1:n.1223+796A>G | |
| NM_001281521.1:c.1223+796A>G | NP_001268450.1:n.1223+796A>G | |
| NM_001281522.1:c.1223+796A>G | NP_001268451.1:n.1223+796A>G | |
| NM_032485.5:c.1223+796A>G | NP_115874.3:n.1223+796A>G | |
| NM_182802.2:c.1175+796A>G | NP_877954.1:n.1175+796A>G | |
| XM_011529387.1:c.1223+796A>G | XP_011527689.1:n.1223+796A>G | |
| XR_937169.1:n.1563+796A>G | ||
| XM_011529387.2:c.1223+796A>G | XP_011527689.1:n.1223+796A>G | |
| XM_017028105.1:c.1223+796A>G | XP_016883594.1:n.1223+796A>G | |
| XM_017028106.1:c.1031+796A>G | XP_016883595.1:n.1031+796A>G | |
| XM_017028107.1:c.374+796A>G | XP_016883596.1:n.374+796A>G | |
| XR_001754422.1:n.1563+796A>G | ||
| XR_001754423.1:n.1563+796A>G | ||
| NM_032485.6:c.1223+796A>G MANE Select | NP_115874.3:n.1223+796A>G | |
| NM_182802.3:c.1175+796A>G | NP_877954.1:n.1175+796A>G | |
| NM_001281520.2:c.1223+796A>G | NP_001268449.1:n.1223+796A>G | |
| NM_001281521.2:c.1223+796A>G | NP_001268450.1:n.1223+796A>G | |
| NM_001281522.2:c.1223+796A>G | NP_001268451.1:n.1223+796A>G |