Linked Data
ClinVar Variation Id:
281988
dbSNP Id:
rs200998047
ExAC:
12:49433724 A / G
gnomAD v2:
12-49433724-A-G
gnomAD v3:
12-49039941-A-G
gnomAD v4:
12-49039941-A-G
COSMIC:
COSM144597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039941A>G , CM000674.2:g.49039941A>G | GRCh38 |
| NC_000012.11:g.49433724A>G , CM000674.1:g.49433724A>G | GRCh37 |
| NC_000012.10:g.47719991A>G | NCBI36 |
| NG_027827.1:g.20384T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.7829T>C | ENSP00000506726.1:p.Leu2610Pro | |
| ENST00000685166.1:c.7838T>C | ENSP00000509386.1:p.Leu2613Pro | |
| ENST00000689060.1:c.1848T>C | ||
| ENST00000689143.1:c.1502T>C | ENSP00000509839.1:p.Leu501Pro | |
| ENST00000689944.1:c.1938T>C | ||
| ENST00000692637.1:c.7826T>C | ENSP00000509666.1:p.Leu2609Pro | |
| ENST00000301067.12:c.7829T>C MANE Select | ENSP00000301067.7:p.Leu2610Pro | |
| ENST00000301067.11:c.7829T>C | ENSP00000301067.7:p.Leu2610Pro | |
| NM_003482.3:c.7829T>C | NP_003473.3:p.Leu2610Pro | |
| XM_005269162.3:c.7829T>C | XP_005269219.1:p.Leu2610Pro | |
| XM_006719614.2:c.7838T>C | XP_006719677.1:p.Leu2613Pro | |
| XM_006719616.2:c.7826T>C | XP_006719679.1:p.Leu2609Pro | |
| XM_011538770.1:c.7838T>C | XP_011537072.1:p.Leu2613Pro | |
| XM_011538771.1:c.7835T>C | XP_011537073.1:p.Leu2612Pro | |
| XM_011538772.1:c.7829T>C | XP_011537074.1:p.Leu2610Pro | |
| XM_011538773.1:c.7826T>C | XP_011537075.1:p.Leu2609Pro | |
| XM_011538774.1:c.7817T>C | XP_011537076.1:p.Leu2606Pro | |
| XM_011538775.1:c.7838T>C | XP_011537077.1:p.Leu2613Pro | |
| XM_011538776.1:c.7745T>C | XP_011537078.1:p.Leu2582Pro | |
| XR_944740.1:n.10158T>C | ||
| XM_005269162.4:c.7829T>C | XP_005269219.1:p.Leu2610Pro | |
| XM_006719614.4:c.7838T>C | XP_006719677.1:p.Leu2613Pro | |
| XM_006719616.3:c.7826T>C | XP_006719679.1:p.Leu2609Pro | |
| XM_011538770.2:c.7838T>C | XP_011537072.1:p.Leu2613Pro | |
| XM_011538771.2:c.7835T>C | XP_011537073.1:p.Leu2612Pro | |
| XM_011538772.2:c.7829T>C | XP_011537074.1:p.Leu2610Pro | |
| XM_011538773.2:c.7826T>C | XP_011537075.1:p.Leu2609Pro | |
| XM_011538774.2:c.7817T>C | XP_011537076.1:p.Leu2606Pro | |
| XM_011538776.2:c.7745T>C | XP_011537078.1:p.Leu2582Pro | |
| XR_001748874.1:n.9147T>C | ||
| NM_003482.4:c.7829T>C MANE Select | NP_003473.3:p.Leu2610Pro |