Linked Data
dbSNP Id:
rs3136461
ExAC:
11:46747369 T / C
gnomAD v2:
11-46747369-T-C
gnomAD v3:
11-46725819-T-C
gnomAD v4:
11-46725819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725819T>C , CM000673.2:g.46725819T>C | GRCh38 |
| NC_000011.9:g.46747369T>C , CM000673.1:g.46747369T>C | GRCh37 |
| NC_000011.8:g.46703945T>C | NCBI36 |
| NG_008953.1:g.11627T>C , LRG_551:g.11627T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.560-40T>C MANE Select | ENSP00000308541.5:n.560-40T>C | |
| ENST00000311907.9:c.560-40T>C | ENSP00000308541.5:n.560-40T>C | |
| ENST00000442468.1:c.530-40T>C | ENSP00000387413.1:n.530-40T>C | |
| ENST00000490274.1:n.340-40T>C | ||
| ENST00000530231.5:c.560-40T>C | ENSP00000433907.1:n.560-40T>C | |
| NM_000506.3:c.560-40T>C | NP_000497.1:n.560-40T>C | |
| NM_000506.4:c.560-40T>C , LRG_551t1:c.560-40T>C | NP_000497.1:n.560-40T>C | |
| NM_001311257.1:c.512-40T>C | NP_001298186.1:n.512-40T>C | |
| XR_428840.2:n.604-40T>C | ||
| XR_428840.4:n.595-40T>C | ||
| NM_000506.5:c.560-40T>C MANE Select | NP_000497.1:n.560-40T>C | |
| NM_001311257.2:c.512-40T>C | NP_001298186.1:n.512-40T>C |