Linked Data
dbSNP Id:
rs11145835
gnomAD v2:
9-139284452-A-G
gnomAD v3:
9-136390000-A-G
gnomAD v4:
9-136390000-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136390000A>G , CM000671.2:g.136390000A>G | GRCh38 |
| NC_000009.11:g.139284452A>G , CM000671.1:g.139284452A>G | GRCh37 |
| NC_000009.10:g.138404273A>G | NCBI36 |
| NG_051233.1:g.15221T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000637388.2:c.976-1409T>C | ENSP00000490037.2:n.976-1409T>C | |
| ENST00000682698.1:n.861-1409T>C | ||
| ENST00000684778.1:c.976-1409T>C MANE Select | ENSP00000510559.1:n.976-1409T>C | |
| ENST00000689006.1:c.*217-1409T>C | ENSP00000509362.1:n.*217-1409T>C | |
| ENST00000637388.1:c.976-1409T>C | ENSP00000490037.1:n.976-1409T>C | |
| ENST00000298532.2:c.976-1409T>C | ENSP00000298532.2:n.976-1409T>C | |
| NM_003086.2:c.976-1409T>C | NP_003077.2:n.976-1409T>C | |
| XM_005266096.1:c.976-1409T>C | XP_005266153.1:n.976-1409T>C | |
| XM_006717241.1:c.976-1409T>C | XP_006717304.1:n.976-1409T>C | |
| XM_006717242.2:c.976-1409T>C | XP_006717305.1:n.976-1409T>C | |
| XM_006717243.2:c.976-1409T>C | XP_006717306.1:n.976-1409T>C | |
| XM_011518941.1:c.976-1409T>C | XP_011517243.1:n.976-1409T>C | |
| XR_428535.1:n.1060-1409T>C | ||
| NM_003086.3:c.976-1409T>C | NP_003077.2:n.976-1409T>C | |
| XM_005266096.3:c.976-1409T>C | XP_005266153.1:n.976-1409T>C | |
| XM_006717241.3:c.976-1409T>C | XP_006717304.1:n.976-1409T>C | |
| XM_006717242.4:c.976-1409T>C | XP_006717305.1:n.976-1409T>C | |
| XM_017015058.2:c.976-1409T>C | XP_016870547.1:n.976-1409T>C | |
| XR_001746368.1:n.2501-1409T>C | ||
| XR_001746369.1:n.2493-1409T>C | ||
| NM_001394201.1:c.976-1409T>C | NP_001381130.1:n.976-1409T>C | |
| NM_001394202.1:c.976-1409T>C | NP_001381131.1:n.976-1409T>C | |
| NM_001394203.1:c.976-1409T>C | NP_001381132.1:n.976-1409T>C | |
| NM_003086.4:c.976-1409T>C MANE Select | NP_003077.2:n.976-1409T>C |