Linked Data
ClinVar Variation Id:
133898
dbSNP Id:
rs587778197
ExAC:
19:42795121 C / T
gnomAD v2:
19-42795121-C-T
gnomAD v3:
19-42290969-C-T
gnomAD v4:
19-42290969-C-T
COSMIC:
COSM3287118
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42290969C>T , CM000681.2:g.42290969C>T | GRCh38 |
| NC_000019.9:g.42795121C>T , CM000681.1:g.42795121C>T | GRCh37 |
| NC_000019.8:g.47486961C>T | NCBI36 |
| NG_042060.1:g.27433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684265.1:n.4011C>T | ||
| ENST00000681038.1:c.4928C>T MANE Select | ENSP00000505728.1:p.Ser1643Leu | |
| ENST00000160740.7:c.2201C>T | ENSP00000160740.3:p.Ser734Leu | |
| ENST00000572681.6:c.4928C>T | ENSP00000459719.1:p.Ser1643Leu | |
| ENST00000575354.6:c.2201C>T | ENSP00000458663.2:p.Ser734Leu | |
| NM_001304815.1:c.4928C>T | NP_001291744.1:p.Ser1643Leu | |
| NM_015125.4:c.2201C>T | NP_055940.3:p.Ser734Leu | |
| XM_005258673.1:c.2201C>T | XP_005258730.1:p.Ser734Leu | |
| XM_005258674.1:c.2201C>T | XP_005258731.1:p.Ser734Leu | |
| XM_005258675.1:c.2201C>T | XP_005258732.1:p.Ser734Leu | |
| XM_011526660.1:c.4928C>T | XP_011524962.1:p.Ser1643Leu | |
| XM_011526661.1:c.4928C>T | XP_011524963.1:p.Ser1643Leu | |
| XM_011526662.1:c.4928C>T | XP_011524964.1:p.Ser1643Leu | |
| XM_011526663.1:c.4928C>T | XP_011524965.1:p.Ser1643Leu | |
| XM_011526664.1:c.4928C>T | XP_011524966.1:p.Ser1643Leu | |
| XM_011526665.1:c.4928C>T | XP_011524967.1:p.Ser1643Leu | |
| XM_011526666.1:c.4928C>T | XP_011524968.1:p.Ser1643Leu | |
| XM_011526667.1:c.4928C>T | XP_011524969.1:p.Ser1643Leu | |
| XR_935775.1:n.5039C>T | ||
| XR_935776.1:n.5039C>T | ||
| XR_935777.1:n.5039C>T | ||
| XR_935778.1:n.5039C>T | ||
| XR_935779.1:n.5039C>T | ||
| XM_005258673.2:c.2201C>T | XP_005258730.1:p.Ser734Leu | |
| XM_005258674.2:c.2201C>T | XP_005258731.1:p.Ser734Leu | |
| XM_005258675.2:c.2201C>T | XP_005258732.1:p.Ser734Leu | |
| XM_011526660.2:c.4928C>T | XP_011524962.1:p.Ser1643Leu | |
| XM_011526661.2:c.4928C>T | XP_011524963.1:p.Ser1643Leu | |
| XM_011526662.2:c.4928C>T | XP_011524964.1:p.Ser1643Leu | |
| XM_011526663.2:c.4928C>T | XP_011524965.1:p.Ser1643Leu | |
| XM_011526664.2:c.4928C>T | XP_011524966.1:p.Ser1643Leu | |
| XM_011526665.2:c.4928C>T | XP_011524967.1:p.Ser1643Leu | |
| XM_011526666.2:c.4928C>T | XP_011524968.1:p.Ser1643Leu | |
| XM_011526667.2:c.4928C>T | XP_011524969.1:p.Ser1643Leu | |
| XM_024451432.1:c.4928C>T | XP_024307200.1:p.Ser1643Leu | |
| XM_024451433.1:c.4928C>T | XP_024307201.1:p.Ser1643Leu | |
| XR_002958286.1:n.5038C>T | ||
| XR_002958287.1:n.5038C>T | ||
| XR_002958288.1:n.5038C>T | ||
| XR_002958289.1:n.5038C>T | ||
| XR_002958290.1:n.5038C>T | ||
| XR_935778.2:n.5038C>T | ||
| XR_935779.2:n.5038C>T | ||
| NM_001304815.2:c.4928C>T | NP_001291744.1:p.Ser1643Leu | |
| NM_001379480.1:c.4928C>T | NP_001366409.1:p.Ser1643Leu | |
| NM_001379482.1:c.4928C>T | NP_001366411.1:p.Ser1643Leu | |
| NM_001379484.1:c.2201C>T | NP_001366413.1:p.Ser734Leu | |
| NM_001379485.1:c.2201C>T | NP_001366414.1:p.Ser734Leu | |
| NM_001386298.1:c.4928C>T MANE Select | NP_001373227.1:p.Ser1643Leu | |
| NM_015125.5:c.2201C>T | NP_055940.3:p.Ser734Leu |