Linked Data
dbSNP Id:
rs780775476
ExAC:
2:27597953 G / C
gnomAD v2:
2-27597953-G-C
gnomAD v4:
2-27375086-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375086G>C , CM000664.2:g.27375086G>C | GRCh38 |
| NC_000002.11:g.27597953G>C , CM000664.1:g.27597953G>C | GRCh37 |
| NC_000002.10:g.27451457G>C | NCBI36 |
| NG_009305.1:g.372C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.707G>C MANE Select | ENSP00000233575.2:p.Trp236Ser | |
| ENST00000233575.6:c.707G>C | ENSP00000233575.2:p.Trp236Ser | |
| ENST00000427123.5:c.*517G>C | ENSP00000405399.1:n.*517G>C | |
| ENST00000440760.5:c.*552G>C | ENSP00000399727.1:n.*552G>C | |
| ENST00000453453.1:c.*234G>C | ENSP00000401922.1:n.*234G>C | |
| ENST00000493711.1:n.424G>C | ||
| ENST00000494893.5:n.883G>C | ||
| ENST00000537606.5:c.632G>C | ENSP00000439208.1:p.Trp211Ser | |
| NM_001267059.1:c.671G>C | NP_001253988.1:p.Trp224Ser | |
| NM_001267060.1:c.632G>C | NP_001253989.1:p.Trp211Ser | |
| NM_001267061.1:c.647G>C | NP_001253990.1:p.Trp216Ser | |
| NM_014748.3:c.707G>C | NP_055563.1:p.Trp236Ser | |
| NR_049782.1:n.1080G>C | ||
| NR_049783.1:n.1053G>C | ||
| NR_049784.1:n.1029G>C | ||
| NR_049785.1:n.962G>C | ||
| NR_049786.1:n.911G>C | ||
| NR_049787.1:n.762G>C | ||
| NR_049788.1:n.692G>C | ||
| XM_011533203.1:c.65G>C | XP_011531505.1:p.Trp22Ser | |
| XM_011533203.2:c.65G>C | XP_011531505.1:p.Trp22Ser | |
| XM_017005405.2:c.65G>C | XP_016860894.1:p.Trp22Ser | |
| NM_014748.4:c.707G>C MANE Select | NP_055563.1:p.Trp236Ser | |
| NM_001267059.2:c.671G>C | NP_001253988.1:p.Trp224Ser | |
| NM_001267061.2:c.647G>C | NP_001253990.1:p.Trp216Ser | |
| NR_049782.2:n.960G>C | ||
| NR_049783.2:n.933G>C | ||
| NR_049784.2:n.909G>C | ||
| NR_049785.2:n.842G>C | ||
| NR_049786.2:n.791G>C | ||
| NR_049787.2:n.642G>C | ||
| NR_049788.2:n.572G>C | ||
| NM_001267060.2:c.632G>C | NP_001253989.1:p.Trp211Ser |