Linked Data
dbSNP Id:
rs751178840
ExAC:
1:109806849 G / C
gnomAD v2:
1-109806849-G-C
gnomAD v4:
1-109264227-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264227G>C , CM000663.2:g.109264227G>C | GRCh38 |
| NC_000001.10:g.109806849G>C , CM000663.1:g.109806849G>C | GRCh37 |
| NC_000001.9:g.109608372G>C | NCBI36 |
| NG_052669.1:g.19523G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5151G>C MANE Select | ENSP00000271332.3:p.Leu1717= | |
| ENST00000271332.3:c.5151G>C | ENSP00000271332.3:p.Leu1717= | |
| NM_001408.2:c.5151G>C | NP_001399.1:p.Leu1717= | |
| XM_005270580.3:c.5151G>C | XP_005270637.1:p.Leu1717= | |
| NM_001408.3:c.5151G>C MANE Select | NP_001399.1:p.Leu1717= |