Linked Data
ClinVar Variation Id:
305841
dbSNP Id:
rs149045005
ExAC:
11:68685306 C / T
gnomAD v2:
11-68685306-C-T
gnomAD v3:
11-68917838-C-T
gnomAD v4:
11-68917838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917838C>T , CM000673.2:g.68917838C>T | GRCh38 |
| NC_000011.9:g.68685306C>T , CM000673.1:g.68685306C>T | GRCh37 |
| NC_000011.8:g.68441882C>T | NCBI36 |
| NG_007976.1:g.18988C>T , LRG_250:g.18988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1015C>T MANE Select | ENSP00000255078.4:p.Leu339Phe | |
| ENST00000674745.1:c.103C>T | ENSP00000502738.1:p.Leu35Phe | |
| ENST00000674775.1:n.103C>T | ||
| ENST00000674955.1:c.1015C>T | ENSP00000502463.1:p.Leu339Phe | |
| ENST00000675118.1:c.503C>T | ||
| ENST00000675119.1:c.442C>T | ENSP00000501861.1:n.442C>T | |
| ENST00000675305.1:c.335C>T | ENSP00000502365.1:n.335C>T | |
| ENST00000675464.1:c.298C>T | ENSP00000502650.1:p.Leu100Phe | |
| ENST00000675493.1:n.103C>T | ||
| ENST00000675615.1:c.1015C>T | ENSP00000502413.1:p.Leu339Phe | |
| ENST00000675648.1:n.390C>T | ||
| ENST00000675683.1:c.402C>T | ||
| ENST00000675684.1:c.103C>T | ENSP00000502192.1:p.Leu35Phe | |
| ENST00000676173.1:n.1059C>T | ||
| ENST00000676228.1:c.*338C>T | ENSP00000502375.1:n.*338C>T | |
| ENST00000255078.7:c.1015C>T | ENSP00000255078.3:p.Leu339Phe | |
| NM_002180.2:c.1015C>T , LRG_250t1:c.1015C>T | NP_002171.2:p.Leu339Phe | |
| XM_005273974.2:c.4C>T | XP_005274031.1:p.Leu2Phe | |
| XM_005273976.1:c.1015C>T | XP_005274033.1:p.Leu339Phe | |
| XR_247198.1:n.1117C>T | ||
| XR_949903.1:n.1117C>T | ||
| XM_005273976.2:c.1015C>T | XP_005274033.1:p.Leu339Phe | |
| XM_017017669.2:c.4C>T | XP_016873158.1:p.Leu2Phe | |
| XM_017017670.2:c.4C>T | XP_016873159.1:p.Leu2Phe | |
| XM_017017671.2:c.1015C>T | XP_016873160.1:p.Leu339Phe | |
| XR_949903.3:n.1113C>T | ||
| NM_002180.3:c.1015C>T MANE Select | NP_002171.2:p.Leu339Phe |