Linked Data
ClinVar Variation Id:
297161
dbSNP Id:
rs759430430
ExAC:
1:33272202 G / A
gnomAD v2:
1-33272202-G-A
gnomAD v3:
1-32806601-G-A
gnomAD v4:
1-32806601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32806601G>A , CM000663.2:g.32806601G>A | GRCh38 |
| NC_000001.10:g.33272202G>A , CM000663.1:g.33272202G>A | GRCh37 |
| NC_000001.9:g.33044789G>A | NCBI36 |
| NG_008408.1:g.16432C>T , LRG_273:g.16432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.244C>T | ENSP00000502019.1:p.Leu82= | |
| ENST00000373477.9:c.391C>T MANE Select | ENSP00000362576.4:p.Leu131= | |
| ENST00000481895.6:c.391C>T | ENSP00000502016.1:p.Leu131= | |
| ENST00000616261.2:c.391C>T | ENSP00000484192.2:p.Leu131= | |
| ENST00000674629.1:c.68C>T | ENSP00000502470.1:p.Thr23Ile | |
| ENST00000674654.1:c.380+3990C>T | ENSP00000501729.1:n.380+3990C>T | |
| ENST00000675785.1:c.244C>T | ENSP00000502019.1:p.Leu82= | |
| ENST00000676297.1:c.391C>T | ENSP00000501596.1:p.Leu131= | |
| ENST00000373477.8:c.391C>T | ENSP00000362576.4:p.Leu131= | |
| ENST00000481895.5:n.464C>T | ||
| ENST00000616261.1:c.391C>T | ENSP00000484192.1:p.Leu131= | |
| NM_003680.3:c.391C>T , LRG_273t1:c.391C>T | NP_003671.1:p.Leu131= | |
| XM_011542347.1:c.-240C>T | XP_011540649.1:n.-240C>T | |
| XM_011542348.1:c.-287C>T | XP_011540650.1:n.-287C>T | |
| XM_011542347.2:c.-240C>T | XP_011540649.1:n.-240C>T | |
| XM_017002651.2:c.-287C>T | XP_016858140.1:n.-287C>T | |
| NM_003680.4:c.391C>T MANE Select | NP_003671.1:p.Leu131= |