Linked Data
dbSNP Id:
rs975202318
gnomAD v2:
1-59042386-A-G
gnomAD v3:
1-58576714-A-G
gnomAD v4:
1-58576714-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576714A>G , CM000663.2:g.58576714A>G | GRCh38 |
| NC_000001.10:g.59042386A>G , CM000663.1:g.59042386A>G | GRCh37 |
| NC_000001.9:g.58814974A>G | NCBI36 |
| NG_016237.1:g.5781T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.443T>C MANE Select | ENSP00000360269.2:p.Leu148Pro | |
| ENST00000371225.3:c.443T>C | ENSP00000360269.2:p.Leu148Pro | |
| NM_002353.2:c.443T>C | NP_002344.2:p.Leu148Pro | |
| NM_002353.3:c.443T>C MANE Select | NP_002344.2:p.Leu148Pro |