Linked Data
dbSNP Id:
rs1372707521
gnomAD v3:
6-129505233-C-A
gnomAD v4:
6-129505233-C-A
COSMIC:
COSM275810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129505233C>A , CM000668.2:g.129505233C>A | GRCh38 |
| NC_000006.11:g.129826378C>A , CM000668.1:g.129826378C>A | GRCh37 |
| NC_000006.10:g.129868071C>A | NCBI36 |
| NG_008678.1:g.627093C>A , LRG_409:g.627093C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.646C>A | ENSP00000510626.1:p.Leu216Ile | |
| ENST00000498257.6:c.646C>A | ENSP00000510533.1:p.Leu216Ile | |
| ENST00000617695.5:c.8569C>A | ENSP00000481744.2:p.Leu2857Ile | |
| ENST00000618192.5:c.8845C>A | ENSP00000480802.2:p.Leu2949Ile | |
| ENST00000688198.1:n.1559C>A | ||
| ENST00000688799.1:c.646C>A | ENSP00000508458.1:p.Leu216Ile | |
| ENST00000690858.1:n.1575C>A | ||
| ENST00000693461.1:n.918C>A | ||
| ENST00000421865.3:c.8581C>A MANE Select | ENSP00000400365.2:p.Leu2861Ile | |
| ENST00000421865.2:c.8581C>A | ENSP00000400365.2:p.Leu2861Ile | |
| ENST00000617695.4:c.8569C>A | ENSP00000481744.1:p.Leu2857Ile | |
| ENST00000618192.4:c.8578C>A | ENSP00000480802.1:p.Leu2860Ile | |
| NM_000426.3:c.8581C>A , LRG_409t1:c.8581C>A | NP_000417.2:p.Leu2861Ile | |
| NM_001079823.1:c.8569C>A | NP_001073291.1:p.Leu2857Ile | |
| XM_005266981.2:c.8845C>A | XP_005267038.1:p.Leu2949Ile | |
| XM_005266982.2:c.8833C>A | XP_005267039.1:p.Leu2945Ile | |
| XM_011535820.1:c.8839C>A | XP_011534122.1:p.Leu2947Ile | |
| XR_942984.1:n.1461-2442G>T | ||
| XR_942985.1:n.1325-2442G>T | ||
| XM_005266981.3:c.8845C>A | XP_005267038.1:p.Leu2949Ile | |
| XM_005266982.3:c.8833C>A | XP_005267039.1:p.Leu2945Ile | |
| XM_011535820.2:c.8839C>A | XP_011534122.1:p.Leu2947Ile | |
| XM_017010851.2:c.8851C>A | XP_016866340.1:p.Leu2951Ile | |
| XM_017010852.1:c.6976C>A | XP_016866341.1:p.Leu2326Ile | |
| XR_001743859.1:n.3901-2442G>T | ||
| XR_001743860.1:n.1180-2442G>T | ||
| XR_001743861.1:n.1347-2442G>T | ||
| XR_001743863.1:n.883-2442G>T | ||
| XR_002956395.1:n.9132-2442G>T | ||
| XR_002956396.1:n.3127-2442G>T | ||
| NM_000426.4:c.8581C>A MANE Select | NP_000417.3:p.Leu2861Ile | |
| NM_001079823.2:c.8569C>A | NP_001073291.2:p.Leu2857Ile |