Linked Data
dbSNP Id:
rs764598236
ExAC:
19:11537079 A / C
gnomAD v2:
19-11537079-A-C
gnomAD v4:
19-11426259-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11426259A>C , CM000681.2:g.11426259A>C | GRCh38 |
| NC_000019.9:g.11537079A>C , CM000681.1:g.11537079A>C | GRCh37 |
| NC_000019.8:g.11398079A>C | NCBI36 |
| NG_041777.1:g.14524T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.848T>G MANE Select | ENSP00000348757.3:p.Leu283Arg | |
| ENST00000356392.8:c.848T>G | ENSP00000348757.3:p.Leu283Arg | |
| ENST00000586836.5:c.275T>G | ENSP00000467429.1:p.Leu92Arg | |
| ENST00000591179.5:c.668T>G | ENSP00000466800.1:p.Leu223Arg | |
| ENST00000591345.5:c.*767T>G | ENSP00000467313.1:n.*767T>G | |
| NM_001302453.1:c.686T>G | NP_001289382.1:p.Leu229Arg | |
| NM_001302454.1:c.668T>G | NP_001289383.1:p.Leu223Arg | |
| NM_145045.4:c.848T>G | NP_659482.3:p.Leu283Arg | |
| XM_017026241.1:c.848T>G | XP_016881730.1:p.Leu283Arg | |
| NM_145045.5:c.848T>G MANE Select | NP_659482.3:p.Leu283Arg | |
| NM_001302454.2:c.668T>G | NP_001289383.1:p.Leu223Arg |