Linked Data
dbSNP Id:
rs768467119
ExAC:
10:115347983 T / C
gnomAD v2:
10-115347983-T-C
gnomAD v3:
10-113588224-T-C
gnomAD v4:
10-113588224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588224T>C , CM000672.2:g.113588224T>C | GRCh38 |
| NC_000010.10:g.115347983T>C , CM000672.1:g.115347983T>C | GRCh37 |
| NC_000010.9:g.115337973T>C | NCBI36 |
| NG_008956.1:g.40206T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1538T>C MANE Select | ENSP00000277903.4:p.Leu513Pro | |
| ENST00000351270.3:c.1538T>C | ENSP00000277903.4:p.Leu513Pro | |
| ENST00000542051.5:c.1460T>C | ENSP00000443283.1:p.Leu487Pro | |
| NM_001177660.1:c.1460T>C | NP_001171131.1:p.Leu487Pro | |
| NM_004132.3:c.1538T>C | NP_004123.1:p.Leu513Pro | |
| NM_001177660.2:c.1460T>C | NP_001171131.1:p.Leu487Pro | |
| NM_004132.4:c.1538T>C | NP_004123.1:p.Leu513Pro | |
| NM_004132.5:c.1538T>C MANE Select | NP_004123.1:p.Leu513Pro | |
| NM_001177660.3:c.1460T>C | NP_001171131.1:p.Leu487Pro |