Linked Data
ClinVar Variation Id:
2740441
ClinVar RCV Id:
RCV003497505
dbSNP Id:
rs535687467
gnomAD v2:
15-38643409-G-C
gnomAD v4:
15-38351208-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351208G>C , CM000677.2:g.38351208G>C | GRCh38 |
| NC_000015.9:g.38643409G>C , CM000677.1:g.38643409G>C | GRCh37 |
| NC_000015.8:g.36430701G>C | NCBI36 |
| NG_008980.1:g.103358G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.879G>C MANE Select | ENSP00000299084.4:p.Leu293= | |
| ENST00000299084.8:c.879G>C | ENSP00000299084.4:p.Leu293= | |
| NM_152594.2:c.879G>C | NP_689807.1:p.Leu293= | |
| XM_005254202.2:c.915G>C | XP_005254259.1:p.Leu305= | |
| XM_005254203.3:c.657G>C | XP_005254260.1:p.Leu219= | |
| XM_011521288.1:c.816G>C | XP_011519590.1:p.Leu272= | |
| XM_011521289.1:c.816G>C | XP_011519591.1:p.Leu272= | |
| XM_011521290.1:c.816G>C | XP_011519592.1:p.Leu272= | |
| XM_005254202.3:c.915G>C | XP_005254259.1:p.Leu305= | |
| XM_011521289.3:c.816G>C | XP_011519591.1:p.Leu272= | |
| NM_152594.3:c.879G>C MANE Select | NP_689807.1:p.Leu293= |