Linked Data
dbSNP Id:
rs762199184
ExAC:
17:42449760 A / G
gnomAD v2:
17-42449760-A-G
gnomAD v4:
17-44372392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372392A>G , CM000679.2:g.44372392A>G | GRCh38 |
| NC_000017.10:g.42449760A>G , CM000679.1:g.42449760A>G | GRCh37 |
| NC_000017.9:g.39805286A>G | NCBI36 |
| NG_008331.1:g.22114T>C , LRG_479:g.22114T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3092T>C MANE Select | ENSP00000262407.5:p.Leu1031Pro | |
| ENST00000648408.1:c.2406T>C | ||
| ENST00000262407.5:c.3092T>C | ENSP00000262407.5:p.Leu1031Pro | |
| ENST00000587295.5:c.285T>C | ||
| ENST00000588098.1:c.69T>C | ||
| NM_000419.3:c.3092T>C , LRG_479t1:c.3092T>C | NP_000410.2:p.Leu1031Pro | |
| XM_011524749.1:c.2990T>C | XP_011523051.1:p.Leu997Pro | |
| XM_011524750.1:c.2975T>C | XP_011523052.1:p.Leu992Pro | |
| NM_000419.4:c.3092T>C | NP_000410.2:p.Leu1031Pro | |
| NM_000419.5:c.3092T>C MANE Select | NP_000410.2:p.Leu1031Pro |