Linked Data
dbSNP Id:
rs200531616
ExAC:
1:169524479 G / C
gnomAD v2:
1-169524479-G-C
gnomAD v3:
1-169555241-G-C
gnomAD v4:
1-169555241-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555241G>C , CM000663.2:g.169555241G>C | GRCh38 |
| NC_000001.10:g.169524479G>C , CM000663.1:g.169524479G>C | GRCh37 |
| NC_000001.9:g.167791103G>C | NCBI36 |
| NG_011806.1:g.36291C>G , LRG_553:g.36291C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1059C>G MANE Select | ENSP00000356771.3:p.Phe353Leu | |
| ENST00000367796.3:c.1059C>G | ENSP00000356770.3:p.Phe353Leu | |
| ENST00000367797.7:c.1059C>G | ENSP00000356771.3:p.Phe353Leu | |
| NM_000130.4:c.1059C>G , LRG_553t1:c.1059C>G | NP_000121.2:p.Phe353Leu | |
| XM_017000660.2:c.648C>G | XP_016856149.1:p.Phe216Leu | |
| NM_000130.5:c.1059C>G MANE Select | NP_000121.2:p.Phe353Leu |