Linked Data
ClinVar Variation Id:
1191084
dbSNP Id:
rs1251500082
gnomAD v2:
12-6438989-G-A
gnomAD v3:
12-6329823-G-A
gnomAD v4:
12-6329823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329823G>A , CM000674.2:g.6329823G>A | GRCh38 |
| NC_000012.11:g.6438989G>A , CM000674.1:g.6438989G>A | GRCh37 |
| NC_000012.10:g.6309250G>A | NCBI36 |
| NG_007506.1:g.17273C>T , LRG_193:g.17273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2113C>T | ||
| ENST00000437813.8:c.*473C>T | ENSP00000513672.1:n.*473C>T | |
| ENST00000440083.7:c.1231C>T | ENSP00000413224.3:p.Leu411Phe | |
| ENST00000535958.2:c.*839C>T | ENSP00000513673.1:n.*839C>T | |
| ENST00000698337.1:n.973C>T | ||
| ENST00000698338.1:n.1626C>T | ||
| ENST00000698339.1:c.*507C>T | ENSP00000513670.1:n.*507C>T | |
| ENST00000698340.1:c.*251C>T | ENSP00000513671.1:n.*251C>T | |
| ENST00000162749.7:c.1012C>T MANE Select | ENSP00000162749.2:p.Leu338Phe | |
| ENST00000162749.6:c.1012C>T | ENSP00000162749.2:p.Leu338Phe | |
| ENST00000534885.5:c.*489C>T | ENSP00000441803.1:n.*489C>T | |
| ENST00000536717.5:n.916C>T | ||
| ENST00000540022.5:c.883C>T | ENSP00000438343.1:p.Leu295Phe | |
| ENST00000543359.5:n.424C>T | ||
| ENST00000543995.5:c.*599C>T | ENSP00000442405.1:n.*599C>T | |
| NM_001065.3:c.1012C>T , LRG_193t1:c.1012C>T | NP_001056.1:p.Leu338Phe | |
| NM_001346091.1:c.688C>T | NP_001333020.1:p.Leu230Phe | |
| NM_001346092.1:c.553C>T | NP_001333021.1:p.Leu185Phe | |
| NR_144351.1:n.1241C>T | ||
| NM_001065.4:c.1012C>T MANE Select | NP_001056.1:p.Leu338Phe | |
| NM_001346091.2:c.688C>T | NP_001333020.1:p.Leu230Phe | |
| NM_001346092.2:c.553C>T | NP_001333021.1:p.Leu185Phe | |
| NR_144351.2:n.1200C>T |