Linked Data
dbSNP Id:
rs187613357
ExAC:
3:165548105 A / G
gnomAD v2:
3-165548105-A-G
gnomAD v3:
3-165830317-A-G
gnomAD v4:
3-165830317-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830317A>G , CM000665.2:g.165830317A>G | GRCh38 |
| NC_000003.11:g.165548105A>G , CM000665.1:g.165548105A>G | GRCh37 |
| NC_000003.10:g.167030799A>G | NCBI36 |
| NG_009031.1:g.12149T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.717T>C MANE Select | ENSP00000264381.3:p.Pro239= | |
| ENST00000264381.7:c.717T>C | ENSP00000264381.3:p.Pro239= | |
| ENST00000479451.5:c.107+6997T>C | ENSP00000418325.1:n.107+6997T>C | |
| ENST00000482958.1:c.717T>C | ENSP00000419804.1:p.Pro239= | |
| ENST00000488954.1:c.107+6997T>C | ENSP00000418504.1:n.107+6997T>C | |
| ENST00000497011.5:c.717T>C | ENSP00000419505.1:p.Pro239= | |
| NM_000055.2:c.717T>C | NP_000046.1:p.Pro239= | |
| XM_005247685.1:c.840T>C | XP_005247742.1:p.Pro280= | |
| NM_000055.3:c.717T>C | NP_000046.1:p.Pro239= | |
| NR_137635.1:n.159+6997T>C | ||
| NR_137636.1:n.884T>C | ||
| NM_000055.4:c.717T>C MANE Select | NP_000046.1:p.Pro239= | |
| NR_137635.2:n.110+6997T>C | ||
| NR_137636.2:n.835T>C |