Linked Data
ClinVar Variation Id:
2989
dbSNP Id:
rs120074124
gnomAD v2:
11-6413206-T-C
gnomAD v3:
11-6391976-T-C
gnomAD v4:
11-6391976-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391976T>C , CM000673.2:g.6391976T>C | GRCh38 |
| NC_000011.9:g.6413206T>C , CM000673.1:g.6413206T>C | GRCh37 |
| NC_000011.8:g.6369782T>C | NCBI36 |
| NG_011780.1:g.6552T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.911T>C MANE Select | ENSP00000340409.4:p.Leu304Pro | |
| ENST00000342245.8:c.911T>C | ENSP00000340409.4:p.Leu304Pro | |
| ENST00000526280.1:c.100T>C | ||
| ENST00000527275.5:c.908T>C | ENSP00000435350.1:p.Leu303Pro | |
| ENST00000530395.1:c.92T>C | ENSP00000431479.1:p.Leu31Pro | |
| ENST00000531303.5:c.438+473T>C | ENSP00000432625.1:n.438+473T>C | |
| ENST00000533123.5:c.911T>C | ENSP00000435950.1:p.Leu304Pro | |
| ENST00000533196.1:n.375-30T>C | ||
| ENST00000534405.5:c.911T>C | ENSP00000434353.1:p.Leu304Pro | |
| NM_000543.4:c.911T>C | NP_000534.3:p.Leu304Pro | |
| NM_001007593.2:c.908T>C | NP_001007594.2:p.Leu303Pro | |
| XM_005253075.3:c.911T>C | XP_005253132.1:p.Leu304Pro | |
| XM_011520303.1:c.911T>C | XP_011518605.1:p.Leu304Pro | |
| XM_011520304.1:c.911T>C | XP_011518606.1:p.Leu304Pro | |
| XR_930886.1:n.1209T>C | ||
| NM_001318087.1:c.911T>C | NP_001305016.1:p.Leu304Pro | |
| NM_001318088.1:c.-51T>C | NP_001305017.1:n.-51T>C | |
| NM_001365135.1:c.911T>C | NP_001352064.1:p.Leu304Pro | |
| NR_027400.2:n.1096T>C | ||
| NR_134502.1:n.623+473T>C | ||
| XM_011520304.2:c.911T>C | XP_011518606.1:p.Leu304Pro | |
| XR_001747940.2:n.1036T>C | ||
| XR_002957158.1:n.1036T>C | ||
| NM_000543.5:c.911T>C MANE Select | NP_000534.3:p.Leu304Pro | |
| NM_001007593.3:c.908T>C | NP_001007594.2:p.Leu303Pro | |
| NM_001318087.2:c.911T>C | NP_001305016.1:p.Leu304Pro | |
| NM_001318088.2:c.-51T>C | NP_001305017.1:n.-51T>C | |
| NM_001365135.2:c.911T>C | NP_001352064.1:p.Leu304Pro | |
| NR_027400.3:n.1036T>C | ||
| NR_134502.2:n.563+473T>C |