Linked Data
ClinVar Variation Id:
446663
dbSNP Id:
rs761707323
ExAC:
4:5690971 C / A
gnomAD v2:
4-5690971-C-A
gnomAD v3:
4-5689244-C-A
gnomAD v4:
4-5689244-C-A
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5689244C>A , CM000666.2:g.5689244C>A | GRCh38 |
| NC_000004.11:g.5690971C>A , CM000666.1:g.5690971C>A | GRCh37 |
| NC_000004.10:g.5741872C>A | NCBI36 |
| NG_015821.1:g.25305G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.619G>T MANE Select | ENSP00000342144.5:p.Asp207Tyr | |
| ENST00000310917.6:c.379G>T | ENSP00000311683.2:p.Asp127Tyr | |
| ENST00000344408.9:c.619G>T | ENSP00000342144.5:p.Asp207Tyr | |
| ENST00000475313.5:c.379G>T | ENSP00000431981.1:p.Asp127Tyr | |
| ENST00000509670.1:c.379G>T | ENSP00000423876.1:p.Asp127Tyr | |
| NM_001166136.1:c.379G>T | NP_001159608.1:p.Asp127Tyr | |
| NM_147127.4:c.619G>T | NP_667338.3:p.Asp207Tyr | |
| XM_011513392.1:c.619G>T | XP_011511694.1:p.Asp207Tyr | |
| XM_011513393.1:c.619G>T | XP_011511695.1:p.Asp207Tyr | |
| XM_011513394.1:c.379G>T | XP_011511696.1:p.Asp127Tyr | |
| XM_017007736.1:c.379G>T | XP_016863225.1:p.Asp127Tyr | |
| XM_017007737.1:c.379G>T | XP_016863226.1:p.Asp127Tyr | |
| XM_017007738.1:c.619G>T | XP_016863227.1:p.Asp207Tyr | |
| XM_017007739.1:c.-1054G>T | XP_016863228.1:n.-1054G>T | |
| XM_024453893.1:c.-1158G>T | XP_024309661.1:n.-1158G>T | |
| XR_001741141.1:n.684G>T | ||
| NM_147127.5:c.619G>T MANE Select | NP_667338.3:p.Asp207Tyr | |
| NM_001166136.2:c.379G>T | NP_001159608.1:p.Asp127Tyr |