Linked Data
ClinVar Variation Id:
17933
ClinVar RCV Id:
RCV000019526
dbSNP Id:
rs121912729
PubMed:
PMID:10487826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836019A>G , CM000673.2:g.116836019A>G | GRCh38 |
| NC_000011.9:g.116706735A>G , CM000673.1:g.116706735A>G | GRCh37 |
| NC_000011.8:g.116211945A>G | NCBI36 |
| NG_012021.1:g.6604T>C , LRG_767:g.6604T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236850.5:c.593T>C MANE Select | ENSP00000236850.3:p.Leu198Ser | |
| ENST00000236850.4:c.593T>C | ENSP00000236850.3:p.Leu198Ser | |
| ENST00000359492.6:c.593T>C | ENSP00000352471.2:p.Leu198Ser | |
| ENST00000375320.5:c.593T>C | ENSP00000364469.1:p.Leu198Ser | |
| ENST00000375323.5:c.593T>C | ENSP00000364472.1:p.Leu198Ser | |
| ENST00000375329.6:c.527T>C | ENSP00000364478.2:p.Leu176Ser | |
| NM_000039.1:c.593T>C , LRG_767t1:c.593T>C | NP_000030.1:p.Leu198Ser | |
| XM_005271539.2:c.593T>C | XP_005271596.1:p.Leu198Ser | |
| XM_005271540.1:c.593T>C | XP_005271597.1:p.Leu198Ser | |
| NM_000039.2:c.593T>C | NP_000030.1:p.Leu198Ser | |
| NM_001318017.1:c.593T>C | NP_001304946.1:p.Leu198Ser | |
| NM_001318018.1:c.593T>C | NP_001304947.1:p.Leu198Ser | |
| NM_001318021.1:c.266T>C | NP_001304950.1:p.Leu89Ser | |
| NM_001318017.2:c.593T>C | NP_001304946.1:p.Leu198Ser | |
| NM_001318018.2:c.593T>C | NP_001304947.1:p.Leu198Ser | |
| NM_000039.3:c.593T>C MANE Select | NP_000030.1:p.Leu198Ser |