Linked Data
ClinVar Variation Id:
304875
dbSNP Id:
rs541593593
ExAC:
11:46900723 C / T
gnomAD v2:
11-46900723-C-T
gnomAD v3:
11-46879172-C-T
gnomAD v4:
11-46879172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46879172C>T , CM000673.2:g.46879172C>T | GRCh38 |
| NC_000011.9:g.46900723C>T , CM000673.1:g.46900723C>T | GRCh37 |
| NC_000011.8:g.46857299C>T | NCBI36 |
| NG_021394.1:g.44451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.2958G>A MANE Select | ENSP00000367888.1:p.Leu986= | |
| ENST00000378623.5:c.2958G>A | ENSP00000367888.1:p.Leu986= | |
| NM_002334.3:c.2958G>A | NP_002325.2:p.Leu986= | |
| XM_011520102.1:c.3171G>A | XP_011518404.1:p.Leu1057= | |
| XM_011520103.1:c.2154G>A | XP_011518405.1:p.Leu718= | |
| XM_011520104.1:c.723G>A | XP_011518406.1:p.Leu241= | |
| XM_011520103.2:c.2154G>A | XP_011518405.1:p.Leu718= | |
| XM_011520104.2:c.723G>A | XP_011518406.1:p.Leu241= | |
| XM_017017734.1:c.2958G>A | XP_016873223.1:p.Leu986= | |
| NM_002334.4:c.2958G>A MANE Select | NP_002325.2:p.Leu986= |