Linked Data
dbSNP Id:
rs11203203
gnomAD v2:
21-43836186-G-A
gnomAD v3:
21-42416077-G-A
gnomAD v4:
21-42416077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42416077G>A , CM000683.2:g.42416077G>A | GRCh38 |
| NC_000021.8:g.43836186G>A , CM000683.1:g.43836186G>A | GRCh37 |
| NC_000021.7:g.42709255G>A | NCBI36 |
| NG_029750.1:g.17216G>A | |
| NG_029750.2:g.17216G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319294.11:c.668-365G>A MANE Select | ENSP00000317327.6:n.668-365G>A | |
| ENST00000291535.11:c.554-365G>A | ENSP00000291535.6:n.554-365G>A | |
| ENST00000319294.10:c.668-365G>A | ENSP00000317327.6:n.668-365G>A | |
| ENST00000398367.1:c.554-365G>A | ENSP00000381408.1:n.554-365G>A | |
| ENST00000473381.1:c.554-365G>A | ENSP00000489235.1:n.554-365G>A | |
| ENST00000635325.1:c.554-365G>A | ENSP00000489463.1:n.554-365G>A | |
| NM_001001895.2:c.554-365G>A | NP_001001895.1:n.554-365G>A | |
| NM_001243467.1:c.554-365G>A | NP_001230396.1:n.554-365G>A | |
| NM_018961.3:c.668-365G>A | NP_061834.1:n.668-365G>A | |
| XM_006724013.2:c.611-365G>A | XP_006724076.1:n.611-365G>A | |
| XM_011529605.1:c.668-365G>A | XP_011527907.1:n.668-365G>A | |
| XM_011529606.1:c.263-365G>A | XP_011527908.1:n.263-365G>A | |
| XM_011529607.1:c.263-365G>A | XP_011527909.1:n.263-365G>A | |
| XM_011529608.1:c.668-365G>A | XP_011527910.1:n.668-365G>A | |
| XM_011529609.1:c.668-365G>A | XP_011527911.1:n.668-365G>A | |
| XM_011529610.1:c.-381G>A | XP_011527912.1:n.-381G>A | |
| XR_244316.1:n.638-365G>A | ||
| XR_937510.1:n.638-365G>A | ||
| XM_006724013.3:c.611-365G>A | XP_006724076.1:n.611-365G>A | |
| XM_011529605.3:c.668-365G>A | XP_011527907.1:n.668-365G>A | |
| XM_011529606.3:c.263-365G>A | XP_011527908.1:n.263-365G>A | |
| XM_011529607.2:c.263-365G>A | XP_011527909.1:n.263-365G>A | |
| XM_011529609.2:c.668-365G>A | XP_011527911.1:n.668-365G>A | |
| XM_011529610.2:c.-381G>A | XP_011527912.1:n.-381G>A | |
| XR_244316.2:n.620-365G>A | ||
| NM_018961.4:c.668-365G>A MANE Select | NP_061834.1:n.668-365G>A | |
| NM_001001895.3:c.554-365G>A | NP_001001895.1:n.554-365G>A | |
| NM_001243467.2:c.554-365G>A | NP_001230396.1:n.554-365G>A |