Linked Data
ClinVar Variation Id:
2628
ClinVar RCV Id:
RCV000002746
dbSNP Id:
rs119456967
gnomAD v2:
5-138282822-A-G
gnomAD v4:
5-138947133-A-G
PubMed:
PMID:18285827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947133A>G , CM000667.2:g.138947133A>G | GRCh38 |
| NC_000005.9:g.138282822A>G , CM000667.1:g.138282822A>G | GRCh37 |
| NC_000005.8:g.138310721A>G | NCBI36 |
| NG_008112.1:g.256244T>C | |
| NG_008112.2:g.256244T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394817.7:c.1370T>C MANE Select | ENSP00000378294.2:p.Leu457Pro | |
| ENST00000265195.9:c.1370T>C | ENSP00000265195.5:p.Leu457Pro | |
| ENST00000394817.6:c.1370T>C | ENSP00000378294.2:p.Leu457Pro | |
| ENST00000509534.5:c.1391T>C | ENSP00000426858.1:p.Leu464Pro | |
| ENST00000515008.1:n.705T>C | ||
| NM_001037633.1:c.1370T>C | NP_001032722.1:p.Leu457Pro | |
| NM_022464.4:c.1370T>C | NP_071909.1:p.Leu457Pro | |
| XM_011543570.1:c.1400T>C | XP_011541872.1:p.Leu467Pro | |
| XM_011543570.2:c.1400T>C | XP_011541872.1:p.Leu467Pro | |
| XM_024446164.1:c.1370T>C | XP_024301932.1:p.Leu457Pro | |
| NM_022464.5:c.1370T>C MANE Select | NP_071909.1:p.Leu457Pro | |
| NM_001037633.2:c.1370T>C | NP_001032722.1:p.Leu457Pro |