Linked Data
ClinVar Variation Id:
351992
dbSNP Id:
rs139553131
ExAC:
5:149301213 C / T
gnomAD v2:
5-149301213-C-T
gnomAD v3:
5-149921650-C-T
gnomAD v4:
5-149921650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149921650C>T , CM000667.2:g.149921650C>T | GRCh38 |
| NC_000005.9:g.149301213C>T , CM000667.1:g.149301213C>T | GRCh37 |
| NC_000005.8:g.149281406C>T | NCBI36 |
| NG_009102.1:g.28144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.918G>A MANE Select | ENSP00000255266.5:p.Arg306= | |
| ENST00000255266.9:c.918G>A | ENSP00000255266.5:p.Arg306= | |
| ENST00000508173.5:n.1038G>A | ||
| ENST00000613228.1:c.675G>A | ENSP00000478060.1:p.Arg225= | |
| ENST00000617647.4:c.675G>A | ENSP00000482774.1:p.Arg225= | |
| NM_000440.2:c.918G>A | NP_000431.2:p.Arg306= | |
| XM_011537648.1:c.918G>A | XP_011535950.1:p.Arg306= | |
| XM_011537649.1:c.372G>A | XP_011535951.1:p.Arg124= | |
| XM_011537650.1:c.33G>A | XP_011535952.1:p.Arg11= | |
| XM_011537650.2:c.33G>A | XP_011535952.1:p.Arg11= | |
| XM_017009572.2:c.675G>A | XP_016865061.1:p.Arg225= | |
| NM_000440.3:c.918G>A MANE Select | NP_000431.2:p.Arg306= |