Linked Data
ClinVar Variation Id:
534952
dbSNP Id:
rs112976233
ExAC:
14:88904221 T / C
gnomAD v2:
14-88904221-T-C
gnomAD v3:
14-88437877-T-C
gnomAD v4:
14-88437877-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88437877T>C , CM000676.2:g.88437877T>C | GRCh38 |
| NC_000014.8:g.88904221T>C , CM000676.1:g.88904221T>C | GRCh37 |
| NC_000014.7:g.87973974T>C | NCBI36 |
| NG_021183.1:g.57234T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1255T>C MANE Select | ENSP00000377176.4:p.Leu419= | |
| ENST00000045347.11:c.1255T>C | ENSP00000045347.7:p.Leu419= | |
| ENST00000356583.9:c.1159T>C | ENSP00000348991.5:p.Leu387= | |
| ENST00000393545.8:c.1255T>C | ENSP00000377176.4:p.Leu419= | |
| ENST00000553303.1:n.685T>C | ||
| ENST00000553626.5:n.3034T>C | ||
| ENST00000554802.1:c.151T>C | ENSP00000451019.1:p.Leu51= | |
| ENST00000556406.5:c.228T>C | ||
| ENST00000556553.5:c.1159T>C | ENSP00000451128.1:p.Leu387= | |
| ENST00000556666.5:n.1802T>C | ||
| NM_001040428.3:c.1159T>C | NP_001035518.1:p.Leu387= | |
| NM_018418.4:c.1255T>C | NP_060888.2:p.Leu419= | |
| XM_005267851.1:c.1258T>C | XP_005267908.1:p.Leu420= | |
| XM_005267852.1:c.1162T>C | XP_005267909.1:p.Leu388= | |
| XM_005267854.1:c.1066T>C | XP_005267911.1:p.Leu356= | |
| XM_005267855.1:c.1066T>C | XP_005267912.1:p.Leu356= | |
| XM_006720204.1:c.1258T>C | XP_006720267.1:p.Leu420= | |
| XM_006720205.1:c.1258T>C | XP_006720268.1:p.Leu420= | |
| XM_011536951.1:c.1105T>C | XP_011535253.1:p.Leu369= | |
| XM_011536952.1:c.1087T>C | XP_011535254.1:p.Leu363= | |
| XM_011536953.1:c.940T>C | XP_011535255.1:p.Leu314= | |
| XM_005267852.2:c.1162T>C | XP_005267909.1:p.Leu388= | |
| XM_017021452.1:c.1102T>C | XP_016876941.1:p.Leu368= | |
| XM_017021453.1:c.1066T>C | XP_016876942.1:p.Leu356= | |
| XM_017021454.1:c.1063T>C | XP_016876943.1:p.Leu355= | |
| XM_017021455.1:c.1063T>C | XP_016876944.1:p.Leu355= | |
| XM_017021456.1:c.1063T>C | XP_016876945.1:p.Leu355= | |
| XM_017021457.1:c.937T>C | XP_016876946.1:p.Leu313= | |
| XM_024449660.1:c.1084T>C | XP_024305428.1:p.Leu362= | |
| NM_018418.5:c.1255T>C MANE Select | NP_060888.2:p.Leu419= | |
| NM_001040428.4:c.1159T>C | NP_001035518.1:p.Leu387= |