Linked Data
ClinVar Variation Id:
1396699
ClinVar RCV Id:
RCV001903124
dbSNP Id:
rs13181
ExAC:
19:45854919 T / A
gnomAD v2:
19-45854919-T-A
gnomAD v4:
19-45351661-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45351661T>A , CM000681.2:g.45351661T>A | GRCh38 |
| NC_000019.9:g.45854919T>A , CM000681.1:g.45854919T>A | GRCh37 |
| NC_000019.8:g.50546759T>A | NCBI36 |
| NG_007067.2:g.23927A>T , LRG_461:g.23927A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.*248A>T | ENSP00000375808.4:n.*248A>T | |
| ENST00000682414.1:c.2251A>T | ENSP00000507019.1:p.Lys751Ter | |
| ENST00000682508.1:n.2280A>T | ||
| ENST00000684218.1:c.*1509A>T | ENSP00000507804.1:n.*1509A>T | |
| ENST00000684264.1:n.1807A>T | ||
| ENST00000684407.1:c.2128A>T | ENSP00000507775.1:p.Lys710Ter | |
| ENST00000684458.1:c.*737A>T | ENSP00000508260.1:n.*737A>T | |
| ENST00000684468.1:n.1963A>T | ||
| ENST00000391945.10:c.2251A>T MANE Select | ENSP00000375809.4:p.Lys751Ter | |
| ENST00000646507.1:n.2348A>T | ||
| ENST00000391942.6:n.1422A>T | ||
| ENST00000391944.7:c.2017A>T | ENSP00000375808.3:p.Lys673Ter | |
| ENST00000391945.8:c.2251A>T | ENSP00000375809.3:p.Lys751Ter | |
| ENST00000588652.5:n.2339A>T | ||
| NM_000400.3:c.2251A>T , LRG_461t1:c.2251A>T | NP_000391.1:p.Lys751Ter | |
| XM_011526611.1:c.2173A>T | XP_011524913.1:p.Lys725Ter | |
| XM_011526611.2:c.2173A>T | XP_011524913.1:p.Lys725Ter | |
| XM_017026467.1:c.2128A>T | XP_016881956.1:p.Lys710Ter | |
| XR_001753633.2:n.2298A>T | ||
| NM_000400.4:c.2251A>T MANE Select | NP_000391.1:p.Lys751Ter |