Linked Data
dbSNP Id:
rs1389835974
gnomAD v2:
10-6472811-A-G
gnomAD v3:
10-6430849-A-G
gnomAD v4:
10-6430849-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6430849A>G , CM000672.2:g.6430849A>G | GRCh38 |
| NC_000010.10:g.6472811A>G , CM000672.1:g.6472811A>G | GRCh37 |
| NC_000010.9:g.6512817A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263125.10:c.1926T>C MANE Select | ENSP00000263125.5:p.Leu642= | |
| ENST00000263125.9:c.1926T>C | ENSP00000263125.5:p.Leu642= | |
| ENST00000397176.6:c.1737T>C | ENSP00000380361.2:p.Leu579= | |
| ENST00000539722.5:c.1551T>C | ENSP00000441752.1:p.Leu517= | |
| ENST00000610727.1:c.1818T>C | ENSP00000483428.1:p.Leu606= | |
| NM_001242413.2:c.1737T>C | NP_001229342.1:p.Leu579= | |
| NM_001282644.1:c.1818T>C | NP_001269573.1:p.Leu606= | |
| NM_001282645.1:c.1551T>C | NP_001269574.1:p.Leu517= | |
| NM_006257.4:c.1926T>C | NP_006248.1:p.Leu642= | |
| XM_005252496.3:c.2028T>C | XP_005252553.1:p.Leu676= | |
| XM_005252497.3:c.2028T>C | XP_005252554.1:p.Leu676= | |
| XM_006717465.2:c.1926T>C | XP_006717528.1:p.Leu642= | |
| XM_011519547.1:c.1926T>C | XP_011517849.1:p.Leu642= | |
| XM_011519548.1:c.1939-2487T>C | XP_011517850.1:n.1939-2487T>C | |
| NM_001323265.1:c.1926T>C | NP_001310194.1:p.Leu642= | |
| NM_001323266.1:c.1551T>C | NP_001310195.1:p.Leu517= | |
| NM_001323267.1:c.1818T>C | NP_001310196.1:p.Leu606= | |
| XM_005252496.4:c.2028T>C | XP_005252553.1:p.Leu676= | |
| XM_005252497.4:c.2028T>C | XP_005252554.1:p.Leu676= | |
| XM_024448076.1:c.1926T>C | XP_024303844.1:p.Leu642= | |
| XM_024448077.1:c.1551T>C | XP_024303845.1:p.Leu517= | |
| NM_001282644.2:c.1818T>C | NP_001269573.1:p.Leu606= | |
| NM_001323266.2:c.1551T>C | NP_001310195.1:p.Leu517= | |
| NM_006257.5:c.1926T>C MANE Select | NP_006248.1:p.Leu642= | |
| NM_001323267.2:c.1818T>C | NP_001310196.1:p.Leu606= |