Linked Data
ClinVar Variation Id:
126379
dbSNP Id:
rs515726134
gnomAD v2:
10-112660224-A-C
gnomAD v3:
10-110900466-A-C
gnomAD v4:
10-110900466-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110900466A>C , CM000672.2:g.110900466A>C | GRCh38 |
| NC_000010.10:g.112660224A>C , CM000672.1:g.112660224A>C | GRCh37 |
| NC_000010.9:g.112650214A>C | NCBI36 |
| NG_041778.1:g.23901T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448814.7:c.173T>G MANE Select | ENSP00000436622.2:p.Leu58Ter | |
| ENST00000651766.1:c.*262T>G | ENSP00000498921.1:n.*262T>G | |
| ENST00000651952.1:c.107T>G | ENSP00000498552.1:p.Leu36Ter | |
| ENST00000652043.1:c.173T>G | ENSP00000498430.1:p.Leu58Ter | |
| ENST00000652396.1:c.107T>G | ENSP00000498843.1:p.Leu36Ter | |
| ENST00000652400.1:c.107T>G | ENSP00000498614.1:p.Leu36Ter | |
| ENST00000398289.2:c.*132T>G | ENSP00000435795.1:n.*132T>G | |
| ENST00000423273.5:c.98T>G | ENSP00000432274.1:p.Leu33Ter | |
| ENST00000436562.1:c.107T>G | ENSP00000431936.1:p.Leu36Ter | |
| ENST00000447005.5:c.107T>G | ENSP00000432849.1:p.Leu36Ter | |
| ENST00000448814.5:c.173T>G | ENSP00000436622.1:p.Leu58Ter | |
| ENST00000454061.5:c.*18T>G | ENSP00000433157.1:n.*18T>G | |
| ENST00000605265.1:n.4480T>G | ||
| ENST00000605742.5:c.173T>G | ENSP00000474675.1:p.Leu58Ter | |
| NM_001195304.1:c.*18T>G | NP_001182233.1:n.*18T>G | |
| NM_001195305.1:c.173T>G | NP_001182234.1:p.Leu58Ter | |
| NM_001195306.1:c.173T>G | NP_001182235.1:p.Leu58Ter | |
| NM_001195307.1:c.98T>G | NP_001182236.1:p.Leu33Ter | |
| NM_001243783.1:c.107T>G | NP_001230712.1:p.Leu36Ter | |
| NM_001195305.2:c.173T>G | NP_001182234.1:p.Leu58Ter | |
| NM_001243783.2:c.107T>G | NP_001230712.1:p.Leu36Ter | |
| NM_001195304.2:c.*18T>G | NP_001182233.1:n.*18T>G | |
| NM_001195305.3:c.173T>G MANE Select | NP_001182234.1:p.Leu58Ter | |
| NM_001195307.2:c.98T>G | NP_001182236.1:p.Leu33Ter | |
| NM_001243783.3:c.107T>G | NP_001230712.1:p.Leu36Ter | |
| NM_001195306.2:c.173T>G | NP_001182235.1:p.Leu58Ter |