Linked Data
dbSNP Id:
rs755731107
ExAC:
2:27598413 T / G
gnomAD v2:
2-27598413-T-G
gnomAD v3:
2-27375546-T-G
gnomAD v4:
2-27375546-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375546T>G , CM000664.2:g.27375546T>G | GRCh38 |
| NC_000002.11:g.27598413T>G , CM000664.1:g.27598413T>G | GRCh37 |
| NC_000002.10:g.27451917T>G | NCBI36 |
| NG_028219.1:g.10199A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.815T>G MANE Select | ENSP00000233575.2:p.Leu272Trp | |
| ENST00000233575.6:c.815T>G | ENSP00000233575.2:p.Leu272Trp | |
| ENST00000427123.5:c.*625T>G | ENSP00000405399.1:n.*625T>G | |
| ENST00000440760.5:c.*660T>G | ENSP00000399727.1:n.*660T>G | |
| ENST00000453453.1:c.*342T>G | ENSP00000401922.1:n.*342T>G | |
| ENST00000493711.1:n.532T>G | ||
| ENST00000537606.5:c.740T>G | ENSP00000439208.1:p.Leu247Trp | |
| NM_001267059.1:c.779T>G | NP_001253988.1:p.Leu260Trp | |
| NM_001267060.1:c.740T>G | NP_001253989.1:p.Leu247Trp | |
| NM_001267061.1:c.755T>G | NP_001253990.1:p.Leu252Trp | |
| NM_014748.3:c.815T>G | NP_055563.1:p.Leu272Trp | |
| NR_049782.1:n.1188T>G | ||
| NR_049783.1:n.1161T>G | ||
| NR_049784.1:n.1137T>G | ||
| NR_049785.1:n.1070T>G | ||
| NR_049786.1:n.1019T>G | ||
| NR_049787.1:n.870T>G | ||
| NR_049788.1:n.800T>G | ||
| XM_011533203.1:c.173T>G | XP_011531505.1:p.Leu58Trp | |
| XM_011533203.2:c.173T>G | XP_011531505.1:p.Leu58Trp | |
| XM_017005405.2:c.173T>G | XP_016860894.1:p.Leu58Trp | |
| NM_014748.4:c.815T>G MANE Select | NP_055563.1:p.Leu272Trp | |
| NM_001267059.2:c.779T>G | NP_001253988.1:p.Leu260Trp | |
| NM_001267061.2:c.755T>G | NP_001253990.1:p.Leu252Trp | |
| NR_049782.2:n.1068T>G | ||
| NR_049783.2:n.1041T>G | ||
| NR_049784.2:n.1017T>G | ||
| NR_049785.2:n.950T>G | ||
| NR_049786.2:n.899T>G | ||
| NR_049787.2:n.750T>G | ||
| NR_049788.2:n.680T>G | ||
| NM_001267060.2:c.740T>G | NP_001253989.1:p.Leu247Trp |