Linked Data
ClinVar Variation Id:
744965
ClinVar RCV Id:
RCV003497903
dbSNP Id:
rs1458642130
gnomAD v2:
5-138282845-C-T
gnomAD v3:
5-138947156-C-T
gnomAD v4:
5-138947156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947156C>T , CM000667.2:g.138947156C>T | GRCh38 |
| NC_000005.9:g.138282845C>T , CM000667.1:g.138282845C>T | GRCh37 |
| NC_000005.8:g.138310744C>T | NCBI36 |
| NG_008112.1:g.256221G>A | |
| NG_008112.2:g.256221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1347G>A MANE Select | ENSP00000378294.2:p.Leu449= | |
| ENST00000265195.9:c.1347G>A | ENSP00000265195.5:p.Leu449= | |
| ENST00000394817.6:c.1347G>A | ENSP00000378294.2:p.Leu449= | |
| ENST00000509534.5:c.1368G>A | ENSP00000426858.1:p.Leu456= | |
| ENST00000515008.1:n.682G>A | ||
| NM_001037633.1:c.1347G>A | NP_001032722.1:p.Leu449= | |
| NM_022464.4:c.1347G>A | NP_071909.1:p.Leu449= | |
| XM_011543570.1:c.1377G>A | XP_011541872.1:p.Leu459= | |
| XM_011543570.2:c.1377G>A | XP_011541872.1:p.Leu459= | |
| XM_024446164.1:c.1347G>A | XP_024301932.1:p.Leu449= | |
| NM_022464.5:c.1347G>A MANE Select | NP_071909.1:p.Leu449= | |
| NM_001037633.2:c.1347G>A | NP_001032722.1:p.Leu449= |