Linked Data
dbSNP Id:
rs769028094
ExAC:
2:27598006 G / C
gnomAD v2:
2-27598006-G-C
gnomAD v3:
2-27375139-G-C
gnomAD v4:
2-27375139-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375139G>C , CM000664.2:g.27375139G>C | GRCh38 |
| NC_000002.11:g.27598006G>C , CM000664.1:g.27598006G>C | GRCh37 |
| NC_000002.10:g.27451510G>C | NCBI36 |
| NG_009305.1:g.319C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.760G>C MANE Select | ENSP00000233575.2:p.Val254Leu | |
| ENST00000233575.6:c.760G>C | ENSP00000233575.2:p.Val254Leu | |
| ENST00000427123.5:c.*570G>C | ENSP00000405399.1:n.*570G>C | |
| ENST00000440760.5:c.*605G>C | ENSP00000399727.1:n.*605G>C | |
| ENST00000453453.1:c.*287G>C | ENSP00000401922.1:n.*287G>C | |
| ENST00000493711.1:n.477G>C | ||
| ENST00000494893.5:n.936G>C | ||
| ENST00000537606.5:c.685G>C | ENSP00000439208.1:p.Val229Leu | |
| NM_001267059.1:c.724G>C | NP_001253988.1:p.Val242Leu | |
| NM_001267060.1:c.685G>C | NP_001253989.1:p.Val229Leu | |
| NM_001267061.1:c.700G>C | NP_001253990.1:p.Val234Leu | |
| NM_014748.3:c.760G>C | NP_055563.1:p.Val254Leu | |
| NR_049782.1:n.1133G>C | ||
| NR_049783.1:n.1106G>C | ||
| NR_049784.1:n.1082G>C | ||
| NR_049785.1:n.1015G>C | ||
| NR_049786.1:n.964G>C | ||
| NR_049787.1:n.815G>C | ||
| NR_049788.1:n.745G>C | ||
| XM_011533203.1:c.118G>C | XP_011531505.1:p.Val40Leu | |
| XM_011533203.2:c.118G>C | XP_011531505.1:p.Val40Leu | |
| XM_017005405.2:c.118G>C | XP_016860894.1:p.Val40Leu | |
| NM_014748.4:c.760G>C MANE Select | NP_055563.1:p.Val254Leu | |
| NM_001267059.2:c.724G>C | NP_001253988.1:p.Val242Leu | |
| NM_001267061.2:c.700G>C | NP_001253990.1:p.Val234Leu | |
| NR_049782.2:n.1013G>C | ||
| NR_049783.2:n.986G>C | ||
| NR_049784.2:n.962G>C | ||
| NR_049785.2:n.895G>C | ||
| NR_049786.2:n.844G>C | ||
| NR_049787.2:n.695G>C | ||
| NR_049788.2:n.625G>C | ||
| NM_001267060.2:c.685G>C | NP_001253989.1:p.Val229Leu |