Linked Data
ClinVar Variation Id:
348980
dbSNP Id:
rs200300612
ExAC:
4:5566983 A / G
gnomAD v2:
4-5566983-A-G
gnomAD v3:
4-5565256-A-G
gnomAD v4:
4-5565256-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5565256A>G , CM000666.2:g.5565256A>G | GRCh38 |
| NC_000004.11:g.5566983A>G , CM000666.1:g.5566983A>G | GRCh37 |
| NC_000004.10:g.5617884A>G | NCBI36 |
| NG_015821.1:g.149293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344408.10:c.3659+2T>C MANE Select | ENSP00000342144.5:n.3659+2T>C | |
| ENST00000310917.6:c.3419+2T>C | ENSP00000311683.2:n.3419+2T>C | |
| ENST00000344408.9:c.3659+2T>C | ENSP00000342144.5:n.3659+2T>C | |
| ENST00000475313.5:c.3419+2T>C | ENSP00000431981.1:n.3419+2T>C | |
| ENST00000509670.1:c.*2052+2T>C | ENSP00000423876.1:n.*2052+2T>C | |
| NM_001166136.1:c.3419+2T>C | NP_001159608.1:n.3419+2T>C | |
| NM_147127.4:c.3659+2T>C | NP_667338.3:n.3659+2T>C | |
| XM_011513392.1:c.3668+2T>C | XP_011511694.1:n.3668+2T>C | |
| XM_011513393.1:c.3668+2T>C | XP_011511695.1:n.3668+2T>C | |
| XM_011513394.1:c.3428+2T>C | XP_011511696.1:n.3428+2T>C | |
| XM_017007736.1:c.3419+2T>C | XP_016863225.1:n.3419+2T>C | |
| XM_017007737.1:c.3419+2T>C | XP_016863226.1:n.3419+2T>C | |
| XM_017007739.1:c.1979+2T>C | XP_016863228.1:n.1979+2T>C | |
| XM_024453893.1:c.1979+2T>C | XP_024309661.1:n.1979+2T>C | |
| XR_001741141.1:n.3509+2T>C | ||
| NM_147127.5:c.3659+2T>C MANE Select | NP_667338.3:n.3659+2T>C | |
| NM_001166136.2:c.3419+2T>C | NP_001159608.1:n.3419+2T>C |