Linked Data
ClinVar Variation Id:
2023
ClinVar RCV Id:
RCV000002101
dbSNP Id:
rs121434339
PubMed:
PMID:15300250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60830569T>G , CM000670.2:g.60830569T>G | GRCh38 |
| NC_000008.10:g.61743128T>G , CM000670.1:g.61743128T>G | GRCh37 |
| NC_000008.9:g.61905682T>G | NCBI36 |
| NG_007009.1:g.156790T>G , LRG_176:g.156790T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695853.1:c.3770T>G | ENSP00000512218.1:p.Leu1257Arg | |
| ENST00000423902.7:c.3770T>G MANE Select | ENSP00000392028.1:p.Leu1257Arg | |
| ENST00000423902.6:c.3770T>G | ENSP00000392028.1:p.Leu1257Arg | |
| ENST00000524602.5:c.1717-31660T>G | ENSP00000437061.1:n.1717-31660T>G | |
| NM_001316690.1:c.1717-31660T>G | NP_001303619.1:n.1717-31660T>G | |
| NM_017780.3:c.3770T>G | NP_060250.2:p.Leu1257Arg | |
| XM_011517553.1:c.3770T>G | XP_011515855.1:p.Leu1257Arg | |
| XM_011517554.1:c.3770T>G | XP_011515856.1:p.Leu1257Arg | |
| XM_011517555.1:c.3770T>G | XP_011515857.1:p.Leu1257Arg | |
| XM_011517556.1:c.3770T>G | XP_011515858.1:p.Leu1257Arg | |
| XM_011517557.1:c.1757T>G | XP_011515859.1:p.Leu586Arg | |
| XM_011517558.1:c.1307T>G | XP_011515860.1:p.Leu436Arg | |
| XM_011517559.1:c.515T>G | XP_011515861.1:p.Leu172Arg | |
| XM_011517560.1:c.3770T>G | XP_011515862.1:p.Leu1257Arg | |
| XM_011517553.2:c.3770T>G | XP_011515855.1:p.Leu1257Arg | |
| XM_011517554.3:c.3770T>G | XP_011515856.1:p.Leu1257Arg | |
| XM_011517555.2:c.3770T>G | XP_011515857.1:p.Leu1257Arg | |
| XM_011517560.2:c.3770T>G | XP_011515862.1:p.Leu1257Arg | |
| XM_017013612.1:c.3770T>G | XP_016869101.1:p.Leu1257Arg | |
| XM_017013613.1:c.3770T>G | XP_016869102.1:p.Leu1257Arg | |
| NM_017780.4:c.3770T>G MANE Select | NP_060250.2:p.Leu1257Arg |