Linked Data
ClinVar Variation Id:
161614
ClinVar RCV Id:
RCV000149150
dbSNP Id:
rs193921014
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12187261T>G , CM000681.2:g.12187261T>G | GRCh38 |
| NC_000019.9:g.12298076T>G , CM000681.1:g.12298076T>G | GRCh37 |
| NC_000019.8:g.12159076T>G | NCBI36 |
| NG_052983.1:g.29215T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343979.6:c.883T>G MANE Select | ENSP00000344162.4:p.Leu295Val | |
| ENST00000652580.1:c.787T>G | ENSP00000498578.1:p.Leu263Val | |
| ENST00000343979.5:c.883T>G | ENSP00000344162.4:p.Leu295Val | |
| ENST00000464860.1:n.2047T>G | ||
| NM_003437.3:c.883T>G | NP_003428.1:p.Leu295Val | |
| XM_011528269.1:c.787T>G | XP_011526571.1:p.Leu263Val | |
| NM_001348013.1:c.685T>G | NP_001334942.1:p.Leu229Val | |
| NM_001348014.1:c.787T>G | NP_001334943.1:p.Leu263Val | |
| NM_003437.4:c.883T>G | NP_003428.1:p.Leu295Val | |
| NM_003437.5:c.883T>G MANE Select | NP_003428.1:p.Leu295Val | |
| NM_001348013.2:c.685T>G | NP_001334942.1:p.Leu229Val | |
| NM_001348014.2:c.787T>G | NP_001334943.1:p.Leu263Val |