Linked Data
ClinVar Variation Id:
493499
dbSNP Id:
rs760196991
ExAC:
9:135140243 G / C
gnomAD v2:
9-135140243-G-C
gnomAD v3:
9-132264856-G-C
gnomAD v4:
9-132264856-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132264856G>C , CM000671.2:g.132264856G>C | GRCh38 |
| NC_000009.11:g.135140243G>C , CM000671.1:g.135140243G>C | GRCh37 |
| NC_000009.10:g.134130064G>C | NCBI36 |
| NG_007946.1:g.95130C>G , LRG_268:g.95130C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.7417C>G MANE Select | ENSP00000224140.5:p.Leu2473Val | |
| ENST00000224140.5:c.7417C>G | ENSP00000224140.5:p.Leu2473Val | |
| ENST00000436441.5:c.2230C>G | ENSP00000409143.1:p.Leu744Val | |
| ENST00000477049.1:n.567C>G | ||
| NM_015046.5:c.7417C>G , LRG_268t1:c.7417C>G | NP_055861.3:p.Leu2473Val | |
| XM_005272171.1:c.7504C>G | XP_005272228.1:p.Leu2502Val | |
| XM_005272172.1:c.7504C>G | XP_005272229.1:p.Leu2502Val | |
| XM_005272173.1:c.7504C>G | XP_005272230.1:p.Leu2502Val | |
| XM_011518404.1:c.7504C>G | XP_011516706.1:p.Leu2502Val | |
| XM_011518405.1:c.7504C>G | XP_011516707.1:p.Leu2502Val | |
| XR_929739.1:n.7333C>G | ||
| NM_001351527.1:c.7417C>G | NP_001338456.1:p.Leu2473Val | |
| NM_001351528.1:c.7504C>G | NP_001338457.1:p.Leu2502Val | |
| NM_015046.6:c.7417C>G | NP_055861.3:p.Leu2473Val | |
| XM_005272172.3:c.7504C>G | XP_005272229.1:p.Leu2502Val | |
| XM_005272173.3:c.7504C>G | XP_005272230.1:p.Leu2502Val | |
| XM_011518404.3:c.7504C>G | XP_011516706.1:p.Leu2502Val | |
| XM_011518405.3:c.7504C>G | XP_011516707.1:p.Leu2502Val | |
| XM_017014496.1:c.1957C>G | XP_016869985.1:p.Leu653Val | |
| XR_001746251.1:n.6972C>G | ||
| XR_929739.2:n.7333C>G | ||
| NM_015046.7:c.7417C>G MANE Select | NP_055861.3:p.Leu2473Val | |
| NM_001351528.2:c.7504C>G | NP_001338457.1:p.Leu2502Val | |
| NM_001351527.2:c.7417C>G | NP_001338456.1:p.Leu2473Val |