Linked Data
ClinVar Variation Id:
2378056
ClinVar RCV Id:
RCV004211463
dbSNP Id:
rs777120429
gnomAD v3:
8-134478532-T-A
gnomAD v4:
8-134478532-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134478532T>A , CM000670.2:g.134478532T>A | GRCh38 |
| NC_000008.10:g.135490775T>A , CM000670.1:g.135490775T>A | GRCh37 |
| NC_000008.9:g.135559957T>A | NCBI36 |
| NG_016356.1:g.239518A>T | |
| NG_016356.2:g.239518A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377838.8:c.3682A>T MANE Select | ENSP00000367069.3:p.Met1228Leu | |
| ENST00000377838.7:c.3682A>T | ENSP00000367069.3:p.Met1228Leu | |
| ENST00000429442.6:c.*65A>T | ENSP00000394501.2:n.*65A>T | |
| ENST00000518408.5:n.1045A>T | ||
| ENST00000520214.5:c.3646A>T | ENSP00000428483.1:p.Met1216Leu | |
| ENST00000520356.5:c.3388A>T | ENSP00000427879.1:p.Met1130Leu | |
| ENST00000520727.5:c.3646A>T | ENSP00000427831.1:p.Met1216Leu | |
| ENST00000521673.5:c.442A>T | ENSP00000429600.1:p.Met148Leu | |
| ENST00000523243.5:c.*851A>T | ENSP00000429930.1:n.*851A>T | |
| ENST00000523399.5:c.3496A>T | ENSP00000429091.1:p.Met1166Leu | |
| ENST00000523924.5:c.*3664A>T | ENSP00000429050.1:n.*3664A>T | |
| NM_001029939.3:c.3646A>T | NP_001025110.2:p.Met1216Leu | |
| NM_001167583.2:c.3646A>T | NP_001161055.1:p.Met1216Leu | |
| NM_001174157.1:c.3496A>T | NP_001167628.1:p.Met1166Leu | |
| NM_001174158.1:c.3388A>T | NP_001167629.1:p.Met1130Leu | |
| NM_001289394.1:c.3646A>T | NP_001276323.1:p.Met1216Leu | |
| NM_020863.3:c.3682A>T | NP_065914.2:p.Met1228Leu | |
| NR_110323.1:n.4034A>T | ||
| XM_011517203.1:c.3646A>T | XP_011515505.1:p.Met1216Leu | |
| XM_011517204.1:c.3496A>T | XP_011515506.1:p.Met1166Leu | |
| XM_011517204.2:c.3496A>T | XP_011515506.1:p.Met1166Leu | |
| XR_001745569.1:n.3574A>T | ||
| XR_928343.2:n.3802A>T | ||
| NM_020863.4:c.3682A>T MANE Select | NP_065914.2:p.Met1228Leu | |
| NM_001029939.4:c.3646A>T | NP_001025110.2:p.Met1216Leu | |
| NM_001167583.3:c.3646A>T | NP_001161055.1:p.Met1216Leu | |
| NM_001174157.2:c.3496A>T | NP_001167628.1:p.Met1166Leu | |
| NM_001174158.2:c.3388A>T | NP_001167629.1:p.Met1130Leu | |
| NM_001289394.2:c.3646A>T | NP_001276323.1:p.Met1216Leu | |
| NR_110323.2:n.4016A>T |