Linked Data
ClinVar Variation Id:
97868
dbSNP Id:
rs104895454
ExAC:
16:50757230 T / C
gnomAD v2:
16-50757230-T-C
gnomAD v3:
16-50723319-T-C
gnomAD v4:
16-50723319-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50723319T>C , CM000678.2:g.50723319T>C | GRCh38 |
| NC_000016.9:g.50757230T>C , CM000678.1:g.50757230T>C | GRCh37 |
| NC_000016.8:g.49314731T>C | NCBI36 |
| NG_007508.1:g.31181T>C , LRG_177:g.31181T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-6499T>C | ENSP00000493088.1:n.2382-6499T>C | |
| ENST00000646677.2:c.*501T>C | ENSP00000496533.1:n.*501T>C | |
| ENST00000697425.1:c.563T>C | ||
| ENST00000697426.1:c.451T>C | ||
| ENST00000697427.1:c.367T>C | ||
| ENST00000697428.1:n.2214T>C | ||
| ENST00000641284.1:c.2382-6499T>C | ENSP00000493088.1:n.2382-6499T>C | |
| ENST00000646677.1:c.*501T>C | ENSP00000496533.1:n.*501T>C | |
| ENST00000647318.2:c.2736T>C MANE Select | ENSP00000495993.1:p.Ile912= | |
| ENST00000300589.6:c.2817T>C | ENSP00000300589.2:p.Ile939= | |
| ENST00000524712.5:c.311T>C | ||
| ENST00000527052.5:c.283T>C | ||
| ENST00000529633.5:c.395T>C | ||
| ENST00000534057.1:c.451T>C | ||
| ENST00000534067.5:c.547T>C | ||
| NM_001293557.1:c.2736T>C | NP_001280486.1:p.Ile912= | |
| NM_022162.2:c.2817T>C | NP_071445.1:p.Ile939= | |
| XM_005256084.2:c.2736T>C | XP_005256141.1:p.Ile912= | |
| XM_006721242.2:c.2652T>C | XP_006721305.1:p.Ile884= | |
| XM_011523257.1:c.2313T>C | XP_011521559.1:p.Ile771= | |
| XM_011523258.1:c.2313T>C | XP_011521560.1:p.Ile771= | |
| XM_011523259.1:c.2151T>C | XP_011521561.1:p.Ile717= | |
| XR_429725.2:n.2658T>C | ||
| XR_429726.2:n.2574T>C | ||
| XR_933387.1:n.2854T>C | ||
| XM_005256084.4:c.2736T>C | XP_005256141.1:p.Ile912= | |
| XM_006721242.4:c.2652T>C | XP_006721305.1:p.Ile884= | |
| XM_011523259.2:c.2151T>C | XP_011521561.1:p.Ile717= | |
| XM_017023535.1:c.2244T>C | XP_016879024.1:p.Ile748= | |
| XM_017023536.1:c.2151T>C | XP_016879025.1:p.Ile717= | |
| XM_017023537.1:c.2151T>C | XP_016879026.1:p.Ile717= | |
| XM_017023538.1:c.2151T>C | XP_016879027.1:p.Ile717= | |
| XR_429725.3:n.2611T>C | ||
| XR_429726.3:n.2527T>C | ||
| XR_933387.2:n.2807T>C | ||
| NM_001293557.2:c.2736T>C | NP_001280486.1:p.Ile912= | |
| NM_001370466.1:c.2736T>C MANE Select | NP_001357395.1:p.Ile912= | |
| NM_022162.3:c.2817T>C | NP_071445.1:p.Ile939= | |
| NR_163434.1:n.2948T>C |