Linked Data
ClinVar Variation Id:
214001
dbSNP Id:
rs141874052
ExAC:
3:128622968 T / C
gnomAD v2:
3-128622968-T-C
gnomAD v3:
3-128904125-T-C
gnomAD v4:
3-128904125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128904125T>C , CM000665.2:g.128904125T>C | GRCh38 |
| NC_000003.11:g.128622968T>C , CM000665.1:g.128622968T>C | GRCh37 |
| NC_000003.10:g.130105658T>C | NCBI36 |
| NG_017064.1:g.29636T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.1022T>C MANE Select | ENSP00000312618.7:p.Leu341Ser | |
| ENST00000511325.2:n.1100T>C | ||
| ENST00000679399.1:c.*916T>C | ENSP00000505434.1:n.*916T>C | |
| ENST00000679431.1:c.*898T>C | ENSP00000506440.1:n.*898T>C | |
| ENST00000679613.1:c.1022T>C | ENSP00000504971.1:p.Leu341Ser | |
| ENST00000679715.1:c.653T>C | ENSP00000506228.1:p.Leu218Ser | |
| ENST00000679824.1:c.*2328T>C | ENSP00000505516.1:n.*2328T>C | |
| ENST00000679990.1:n.1257T>C | ||
| ENST00000680636.1:c.1022T>C | ENSP00000504886.1:p.Leu341Ser | |
| ENST00000680744.1:c.*375T>C | ENSP00000505243.1:n.*375T>C | |
| ENST00000680764.1:c.*2426T>C | ENSP00000505126.1:n.*2426T>C | |
| ENST00000681319.1:n.1100T>C | ||
| ENST00000681367.1:c.1022T>C | ENSP00000505309.1:p.Leu341Ser | |
| ENST00000681552.1:c.1022T>C | ENSP00000505699.1:p.Leu341Ser | |
| ENST00000681583.1:c.1022T>C | ENSP00000506340.1:p.Leu341Ser | |
| ENST00000681585.1:c.1022T>C | ENSP00000506316.1:p.Leu341Ser | |
| ENST00000681589.1:n.1236T>C | ||
| ENST00000681784.1:n.1100T>C | ||
| ENST00000681886.1:c.*215T>C | ENSP00000506500.1:n.*215T>C | |
| ENST00000308982.11:c.1022T>C | ENSP00000312618.7:p.Leu341Ser | |
| ENST00000505192.5:c.*718T>C | ENSP00000426277.1:n.*718T>C | |
| ENST00000505867.5:c.*822T>C | ENSP00000425346.1:n.*822T>C | |
| ENST00000508971.1:c.311T>C | ENSP00000422683.1:p.Leu104Ser | |
| ENST00000511227.5:c.*916T>C | ENSP00000425226.1:n.*916T>C | |
| ENST00000511526.5:n.527T>C | ||
| NM_014049.4:c.1022T>C | NP_054768.2:p.Leu341Ser | |
| NR_033426.1:n.1400T>C | ||
| XM_011512742.1:c.653T>C | XP_011511044.1:p.Leu218Ser | |
| XR_427367.1:n.1098T>C | ||
| XM_024453484.1:c.653T>C | XP_024309252.1:p.Leu218Ser | |
| XM_024453485.1:c.653T>C | XP_024309253.1:p.Leu218Ser | |
| XR_427367.3:n.1098T>C | ||
| NM_014049.5:c.1022T>C MANE Select | NP_054768.2:p.Leu341Ser | |
| NR_033426.2:n.1270T>C |