Linked Data
ClinVar Variation Id:
329507
dbSNP Id:
rs145835916
ExAC:
19:45855905 C / T
gnomAD v2:
19-45855905-C-T
gnomAD v3:
19-45352647-C-T
gnomAD v4:
19-45352647-C-T
COSMIC:
COSM4079335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352647C>T , CM000681.2:g.45352647C>T | GRCh38 |
| NC_000019.9:g.45855905C>T , CM000681.1:g.45855905C>T | GRCh37 |
| NC_000019.8:g.50547745C>T | NCBI36 |
| NG_007067.2:g.22941G>A , LRG_461:g.22941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1905G>A | ENSP00000375808.4:p.Ala635= | |
| ENST00000682414.1:c.1905G>A | ENSP00000507019.1:p.Ala635= | |
| ENST00000682508.1:n.1934G>A | ||
| ENST00000684218.1:c.*1163G>A | ENSP00000507804.1:n.*1163G>A | |
| ENST00000684264.1:n.1461G>A | ||
| ENST00000684407.1:c.1782G>A | ENSP00000507775.1:p.Ala594= | |
| ENST00000684458.1:c.*391G>A | ENSP00000508260.1:n.*391G>A | |
| ENST00000684468.1:n.1617G>A | ||
| ENST00000391945.10:c.1905G>A MANE Select | ENSP00000375809.4:p.Ala635= | |
| ENST00000646507.1:n.2002G>A | ||
| ENST00000391941.6:c.1833G>A | ENSP00000375805.2:p.Ala611= | |
| ENST00000391942.6:n.1076G>A | ||
| ENST00000391944.7:c.1671G>A | ENSP00000375808.3:p.Ala557= | |
| ENST00000391945.8:c.1905G>A | ENSP00000375809.3:p.Ala635= | |
| ENST00000588652.5:n.1993G>A | ||
| NM_000400.3:c.1905G>A , LRG_461t1:c.1905G>A | NP_000391.1:p.Ala635= | |
| XM_011526611.1:c.1827G>A | XP_011524913.1:p.Ala609= | |
| XM_011526611.2:c.1827G>A | XP_011524913.1:p.Ala609= | |
| XM_017026467.1:c.1782G>A | XP_016881956.1:p.Ala594= | |
| XR_001753633.2:n.1952G>A | ||
| XR_001753634.2:n.1888G>A | ||
| NM_000400.4:c.1905G>A MANE Select | NP_000391.1:p.Ala635= |