Linked Data
ClinVar Variation Id:
322
ClinVar RCV Id:
RCV000000350
dbSNP Id:
rs267607153
gnomAD v4:
7-120810512-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120810512A>T , CM000669.2:g.120810512A>T | GRCh38 |
| NC_000007.13:g.120450566A>T , CM000669.1:g.120450566A>T | GRCh37 |
| NC_000007.12:g.120237802A>T | NCBI36 |
| NG_023203.1:g.52612T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.419T>A MANE Select | ENSP00000222747.3:p.Leu140Ter | |
| ENST00000222747.7:c.419T>A | ENSP00000222747.3:p.Leu140Ter | |
| ENST00000415871.5:c.419T>A | ENSP00000397699.1:p.Leu140Ter | |
| ENST00000441017.5:c.419T>A | ENSP00000411158.1:p.Leu140Ter | |
| ENST00000450414.5:c.398T>A | ENSP00000397411.1:n.398T>A | |
| NM_012338.3:c.419T>A | NP_036470.1:p.Leu140Ter | |
| XM_005250239.1:c.419T>A | XP_005250296.1:p.Leu140Ter | |
| XM_011515993.1:c.419T>A | XP_011514295.1:p.Leu140Ter | |
| XM_011515994.1:c.419T>A | XP_011514296.1:p.Leu140Ter | |
| XM_005250239.3:c.419T>A | XP_005250296.1:p.Leu140Ter | |
| XM_017011913.1:c.344T>A | XP_016867402.1:p.Leu115Ter | |
| NM_012338.4:c.419T>A MANE Select | NP_036470.1:p.Leu140Ter |