Linked Data
dbSNP Id:
rs776413368
ExAC:
2:16085900 T / C
gnomAD v2:
2-16085900-T-C
gnomAD v4:
2-15945778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945778T>C , CM000664.2:g.15945778T>C | GRCh38 |
| NC_000002.11:g.16085900T>C , CM000664.1:g.16085900T>C | GRCh37 |
| NC_000002.10:g.16003351T>C | NCBI36 |
| NG_007457.1:g.10218T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.425T>C | ||
| ENST00000281043.4:c.1076T>C MANE Select | ENSP00000281043.3:p.Leu359Pro | |
| ENST00000638417.1:c.443T>C | ENSP00000491476.1:p.Leu148Pro | |
| ENST00000281043.3:c.1076T>C | ENSP00000281043.3:p.Leu359Pro | |
| NM_001293228.1:c.1076T>C | NP_001280157.1:p.Leu359Pro | |
| NM_001293231.1:c.443T>C | NP_001280160.1:p.Leu148Pro | |
| NM_001293233.1:c.*1011T>C | NP_001280162.1:n.*1011T>C | |
| NM_005378.5:c.1076T>C | NP_005369.2:p.Leu359Pro | |
| NM_005378.6:c.1076T>C MANE Select | NP_005369.2:p.Leu359Pro | |
| NM_001293228.2:c.1076T>C | NP_001280157.1:p.Leu359Pro | |
| NM_001293231.2:c.443T>C | NP_001280160.1:p.Leu148Pro | |
| NM_001293233.2:c.*1011T>C | NP_001280162.1:n.*1011T>C |