Linked Data
dbSNP Id:
rs370332388
ExAC:
2:49190165 C / G
gnomAD v2:
2-49190165-C-G
gnomAD v4:
2-48963026-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963026C>G , CM000664.2:g.48963026C>G | GRCh38 |
| NC_000002.11:g.49190165C>G , CM000664.1:g.49190165C>G | GRCh37 |
| NC_000002.10:g.49043669C>G | NCBI36 |
| NG_008146.1:g.196466G>C , LRG_536:g.196466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.1795G>C MANE Select | ENSP00000384708.2:p.Val599Leu | |
| ENST00000304421.8:c.1717G>C | ENSP00000306780.4:p.Val573Leu | |
| ENST00000406846.6:c.1795G>C | ENSP00000384708.2:p.Val599Leu | |
| NM_000145.3:c.1795G>C , LRG_536t1:c.1795G>C | NP_000136.2:p.Val599Leu | |
| NM_181446.2:c.1717G>C | NP_852111.2:p.Val573Leu | |
| XM_011532733.1:c.1897G>C | XP_011531035.1:p.Val633Leu | |
| XM_011532734.1:c.1564G>C | XP_011531036.1:p.Val522Leu | |
| XM_011532735.1:c.1003G>C | XP_011531037.1:p.Val335Leu | |
| XM_011532736.1:c.1003G>C | XP_011531038.1:p.Val335Leu | |
| XM_011532737.1:c.956+5672G>C | XP_011531039.1:n.956+5672G>C | |
| XM_011532738.1:c.956+5672G>C | XP_011531040.1:n.956+5672G>C | |
| XM_011532739.1:c.956+5672G>C | XP_011531041.1:n.956+5672G>C | |
| XM_011532733.2:c.1897G>C | XP_011531035.1:p.Val633Leu | |
| XM_011532734.2:c.1564G>C | XP_011531036.1:p.Val522Leu | |
| XM_011532735.2:c.1003G>C | XP_011531037.1:p.Val335Leu | |
| XM_011532736.2:c.1003G>C | XP_011531038.1:p.Val335Leu | |
| NM_000145.4:c.1795G>C MANE Select | NP_000136.2:p.Val599Leu | |
| NM_181446.3:c.1717G>C | NP_852111.2:p.Val573Leu |