Linked Data
dbSNP Id:
rs746860191
ExAC:
17:4535210 G / T
gnomAD v2:
17-4535210-G-T
gnomAD v3:
17-4631915-G-T
gnomAD v4:
17-4631915-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631915G>T , CM000679.2:g.4631915G>T | GRCh38 |
| NC_000017.10:g.4535210G>T , CM000679.1:g.4535210G>T | GRCh37 |
| NC_000017.9:g.4481959G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1783C>A MANE Select | ENSP00000293761.3:p.Gln595Lys | |
| ENST00000570836.6:c.1783C>A | ENSP00000458832.1:p.Gln595Lys | |
| ENST00000293761.7:c.1783C>A | ENSP00000293761.3:p.Gln595Lys | |
| ENST00000570836.5:c.1783C>A | ENSP00000458832.1:p.Gln595Lys | |
| ENST00000574640.1:c.1666C>A | ENSP00000460483.1:p.Gln556Lys | |
| NM_001140.3:c.1783C>A | NP_001131.3:p.Gln595Lys | |
| NM_001140.4:c.1783C>A | NP_001131.3:p.Gln595Lys | |
| NM_001140.5:c.1783C>A MANE Select | NP_001131.3:p.Gln595Lys |