Linked Data
dbSNP Id:
rs11144782
gnomAD v2:
9-78795213-C-G
gnomAD v3:
9-76180297-C-G
gnomAD v4:
9-76180297-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.76180297C>G , CM000671.2:g.76180297C>G | GRCh38 |
| NC_000009.11:g.78795213C>G , CM000671.1:g.78795213C>G | GRCh37 |
| NC_000009.10:g.77985033C>G | NCBI36 |
| NG_029445.1:g.294654C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376752.9:c.2003+599C>G | ENSP00000365943.4:n.2003+599C>G | |
| ENST00000674117.1:c.2003+599C>G MANE Select | ENSP00000500971.1:n.2003+599C>G | |
| ENST00000376752.8:c.2003+599C>G | ENSP00000365943.4:n.2003+599C>G | |
| ENST00000424854.6:c.1022+599C>G | ENSP00000411654.1:n.1022+599C>G | |
| ENST00000545128.5:c.2003+599C>G | ENSP00000446280.1:n.2003+599C>G | |
| NM_001190482.1:c.2003+599C>G | NP_001177411.1:n.2003+599C>G | |
| NM_006200.5:c.2003+599C>G | NP_006191.2:n.2003+599C>G | |
| NR_120409.1:n.2437+599C>G | ||
| XM_005252039.2:c.2003+599C>G | XP_005252096.1:n.2003+599C>G | |
| XM_011518769.1:c.2003+599C>G | XP_011517071.1:n.2003+599C>G | |
| XM_011518770.1:c.665+599C>G | XP_011517072.1:n.665+599C>G | |
| XR_929806.1:n.2584+599C>G | ||
| XR_929807.1:n.2584+599C>G | ||
| XM_005252039.4:c.2003+599C>G | XP_005252096.1:n.2003+599C>G | |
| XM_011518769.3:c.2003+599C>G | XP_011517071.1:n.2003+599C>G | |
| XM_011518770.2:c.665+599C>G | XP_011517072.1:n.665+599C>G | |
| XM_017014800.1:c.692+599C>G | XP_016870289.1:n.692+599C>G | |
| XR_929806.2:n.2539+599C>G | ||
| XR_929807.2:n.2539+599C>G | ||
| NM_001372043.1:c.2003+599C>G MANE Select | NP_001358972.1:n.2003+599C>G | |
| NM_006200.6:c.2003+599C>G | NP_006191.2:n.2003+599C>G | |
| NR_120409.2:n.2408+599C>G | ||
| NM_001190482.2:c.2003+599C>G | NP_001177411.1:n.2003+599C>G |