Linked Data
ClinVar Variation Id:
330048
dbSNP Id:
rs761545315
ExAC:
19:54327415 G / T
gnomAD v2:
19-54327415-G-T
gnomAD v3:
19-53824161-G-T
gnomAD v4:
19-53824161-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53824161G>T , CM000681.2:g.53824161G>T | GRCh38 |
| NC_000019.9:g.54327415G>T , CM000681.1:g.54327415G>T | GRCh37 |
| NC_000019.8:g.59019227G>T | NCBI36 |
| NG_008651.1:g.5234C>A | |
| NG_008651.2:g.5234C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.14C>A | ENSP00000375653.1:p.Ala5Glu | |
| ENST00000324134.11:c.14C>A MANE Select | ENSP00000319377.6:p.Ala5Glu | |
| ENST00000391773.6:c.14C>A | ENSP00000375653.1:p.Ala5Glu | |
| ENST00000324134.10:c.14C>A | ENSP00000319377.6:p.Ala5Glu | |
| ENST00000345770.9:c.14C>A | ENSP00000341428.5:p.Ala5Glu | |
| ENST00000391772.1:c.14C>A | ENSP00000375652.1:p.Ala5Glu | |
| ENST00000391773.5:c.14C>A | ENSP00000375653.1:p.Ala5Glu | |
| ENST00000391775.7:c.14C>A | ENSP00000375655.3:p.Ala5Glu | |
| NM_001277126.1:c.14C>A | NP_001264055.1:p.Ala5Glu | |
| NM_001277129.1:c.14C>A | NP_001264058.1:p.Ala5Glu | |
| NM_144687.3:c.14C>A | NP_653288.1:p.Ala5Glu | |
| XM_011527478.1:c.14C>A | XP_011525780.1:p.Ala5Glu | |
| XM_011527479.1:c.14C>A | XP_011525781.1:p.Ala5Glu | |
| XM_011527480.1:c.14C>A | XP_011525782.1:p.Ala5Glu | |
| XM_011527481.1:c.14C>A | XP_011525783.1:p.Ala5Glu | |
| XM_011527482.1:c.14C>A | XP_011525784.1:p.Ala5Glu | |
| XM_011527483.1:c.14C>A | XP_011525785.1:p.Ala5Glu | |
| XM_017027460.1:c.14C>A | XP_016882949.1:p.Ala5Glu | |
| XM_017027461.1:c.14C>A | XP_016882950.1:p.Ala5Glu | |
| XM_017027462.1:c.14C>A | XP_016882951.1:p.Ala5Glu | |
| NM_001277126.2:c.14C>A | NP_001264055.1:p.Ala5Glu | |
| NM_144687.4:c.14C>A MANE Select | NP_653288.1:p.Ala5Glu |