Linked Data
ClinVar Variation Id:
349080
dbSNP Id:
rs113869406
ExAC:
4:5630442 A / G
gnomAD v2:
4-5630442-A-G
gnomAD v3:
4-5628715-A-G
gnomAD v4:
4-5628715-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5628715A>G , CM000666.2:g.5628715A>G | GRCh38 |
| NC_000004.11:g.5630442A>G , CM000666.1:g.5630442A>G | GRCh37 |
| NC_000004.10:g.5681343A>G | NCBI36 |
| NG_015821.1:g.85834T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1730T>C MANE Select | ENSP00000342144.5:p.Met577Thr | |
| ENST00000310917.6:c.1490T>C | ENSP00000311683.2:p.Met497Thr | |
| ENST00000344408.9:c.1730T>C | ENSP00000342144.5:p.Met577Thr | |
| ENST00000475313.5:c.1490T>C | ENSP00000431981.1:p.Met497Thr | |
| ENST00000509670.1:c.*123T>C | ENSP00000423876.1:n.*123T>C | |
| NM_001166136.1:c.1490T>C | NP_001159608.1:p.Met497Thr | |
| NM_147127.4:c.1730T>C | NP_667338.3:p.Met577Thr | |
| XM_011513392.1:c.1739T>C | XP_011511694.1:p.Met580Thr | |
| XM_011513393.1:c.1739T>C | XP_011511695.1:p.Met580Thr | |
| XM_011513394.1:c.1499T>C | XP_011511696.1:p.Met500Thr | |
| XM_017007736.1:c.1490T>C | XP_016863225.1:p.Met497Thr | |
| XM_017007737.1:c.1490T>C | XP_016863226.1:p.Met497Thr | |
| XM_017007738.1:c.1730T>C | XP_016863227.1:p.Met577Thr | |
| XM_017007739.1:c.50T>C | XP_016863228.1:p.Met17Thr | |
| XM_024453893.1:c.50T>C | XP_024309661.1:p.Met17Thr | |
| XR_001741141.1:n.1795T>C | ||
| NM_147127.5:c.1730T>C MANE Select | NP_667338.3:p.Met577Thr | |
| NM_001166136.2:c.1490T>C | NP_001159608.1:p.Met497Thr |