Linked Data
dbSNP Id:
rs376472451
ExAC:
11:88027480 A / C
gnomAD v2:
11-88027480-A-C
gnomAD v3:
11-88294312-A-C
gnomAD v4:
11-88294312-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294312A>C , CM000673.2:g.88294312A>C | GRCh38 |
| NC_000011.9:g.88027480A>C , CM000673.1:g.88027480A>C | GRCh37 |
| NC_000011.8:g.87667128A>C | NCBI36 |
| NG_007952.1:g.48462T>G , LRG_50:g.48462T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.1086T>G MANE Select | ENSP00000227266.4:p.Leu362= | |
| ENST00000533897.2:n.5399T>G | ||
| ENST00000676612.1:c.*893T>G | ENSP00000504440.1:n.*893T>G | |
| ENST00000677208.1:c.*592T>G | ENSP00000504347.1:n.*592T>G | |
| ENST00000677661.1:c.*763T>G | ENSP00000503323.1:n.*763T>G | |
| ENST00000677802.1:c.*763T>G | ENSP00000504115.1:n.*763T>G | |
| ENST00000678395.1:c.*592T>G | ENSP00000503123.1:n.*592T>G | |
| ENST00000678464.1:c.1053T>G | ENSP00000503046.1:p.Leu351= | |
| ENST00000678506.1:c.1047T>G | ENSP00000503580.1:p.Leu349= | |
| ENST00000678520.1:c.*737T>G | ENSP00000503361.1:n.*737T>G | |
| ENST00000678554.1:c.889+1821T>G | ENSP00000504541.1:n.889+1821T>G | |
| ENST00000678915.1:c.954T>G | ENSP00000504805.1:p.Leu318= | |
| ENST00000679224.1:c.723T>G | ENSP00000504475.1:p.Leu241= | |
| ENST00000227266.9:c.1086T>G | ENSP00000227266.4:p.Leu362= | |
| ENST00000533897.1:n.3820T>G | ||
| NM_001814.4:c.1086T>G , LRG_50t1:c.1086T>G | NP_001805.3:p.Leu362= | |
| NM_001814.5:c.1086T>G | NP_001805.3:p.Leu362= | |
| NM_001814.6:c.1086T>G MANE Select | NP_001805.4:p.Leu362= |