Linked Data
dbSNP Id:
rs765192869
ExAC:
1:31845830 A / G
gnomAD v2:
1-31845830-A-G
gnomAD v3:
1-31372983-A-G
gnomAD v4:
1-31372983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31372983A>G , CM000663.2:g.31372983A>G | GRCh38 |
| NC_000001.10:g.31845830A>G , CM000663.1:g.31845830A>G | GRCh37 |
| NC_000001.9:g.31618417A>G | NCBI36 |
| NG_047049.1:g.5301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373713.7:c.32T>C MANE Select | ENSP00000362817.2:p.Leu11Pro | |
| ENST00000373713.6:c.32T>C | ENSP00000362817.2:p.Leu11Pro | |
| ENST00000482018.1:c.32T>C | ENSP00000473982.1:p.Leu11Pro | |
| ENST00000498148.5:c.32T>C | ENSP00000474078.1:p.Leu11Pro | |
| NM_004102.3:c.32T>C | NP_004093.1:p.Leu11Pro | |
| XM_011541007.1:c.32T>C | XP_011539309.1:p.Leu11Pro | |
| NM_001320996.1:c.32T>C | NP_001307925.1:p.Leu11Pro | |
| NM_004102.4:c.32T>C | NP_004093.1:p.Leu11Pro | |
| XM_011541007.3:c.32T>C | XP_011539309.1:p.Leu11Pro | |
| NM_004102.5:c.32T>C MANE Select | NP_004093.1:p.Leu11Pro | |
| NM_001320996.2:c.32T>C | NP_001307925.1:p.Leu11Pro |