Linked Data
dbSNP Id:
rs200799436
ExAC:
11:88033674 A / G
gnomAD v2:
11-88033674-A-G
gnomAD v3:
11-88300506-A-G
gnomAD v4:
11-88300506-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88300506A>G , CM000673.2:g.88300506A>G | GRCh38 |
| NC_000011.9:g.88033674A>G , CM000673.1:g.88033674A>G | GRCh37 |
| NC_000011.8:g.87673322A>G | NCBI36 |
| NG_007952.1:g.42268T>C , LRG_50:g.42268T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.757+24T>C MANE Select | ENSP00000227266.4:n.757+24T>C | |
| ENST00000527018.6:c.757+24T>C | ENSP00000432556.2:n.757+24T>C | |
| ENST00000533897.2:n.829T>C | ||
| ENST00000676612.1:c.*564+24T>C | ENSP00000504440.1:n.*564+24T>C | |
| ENST00000677208.1:c.*263+24T>C | ENSP00000504347.1:n.*263+24T>C | |
| ENST00000677661.1:c.*434+24T>C | ENSP00000503323.1:n.*434+24T>C | |
| ENST00000677802.1:c.*434+24T>C | ENSP00000504115.1:n.*434+24T>C | |
| ENST00000678065.1:n.341T>C | ||
| ENST00000678395.1:c.*263+24T>C | ENSP00000503123.1:n.*263+24T>C | |
| ENST00000678464.1:c.757+24T>C | ENSP00000503046.1:n.757+24T>C | |
| ENST00000678506.1:c.718+24T>C | ENSP00000503580.1:n.718+24T>C | |
| ENST00000678520.1:c.*408+24T>C | ENSP00000503361.1:n.*408+24T>C | |
| ENST00000678554.1:c.757+24T>C | ENSP00000504541.1:n.757+24T>C | |
| ENST00000678915.1:c.757+24T>C | ENSP00000504805.1:n.757+24T>C | |
| ENST00000679224.1:c.394+24T>C | ENSP00000504475.1:n.394+24T>C | |
| ENST00000227266.9:c.757+24T>C | ENSP00000227266.4:n.757+24T>C | |
| ENST00000527018.5:c.627+24T>C | ||
| NM_001814.4:c.757+24T>C , LRG_50t1:c.757+24T>C | NP_001805.3:n.757+24T>C | |
| NM_001814.5:c.757+24T>C | NP_001805.3:n.757+24T>C | |
| NM_001814.6:c.757+24T>C MANE Select | NP_001805.4:n.757+24T>C |