Linked Data
dbSNP Id:
rs775332214
ExAC:
1:150705560 A / G
gnomAD v2:
1-150705560-A-G
gnomAD v3:
1-150733084-A-G
gnomAD v4:
1-150733084-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150733084A>G , CM000663.2:g.150733084A>G | GRCh38 |
| NC_000001.10:g.150705560A>G , CM000663.1:g.150705560A>G | GRCh37 |
| NC_000001.9:g.148972184A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368985.8:c.958T>C MANE Select | ENSP00000357981.3:p.Cys320Arg | |
| ENST00000448301.7:c.730T>C | ENSP00000408414.2:p.Cys244Arg | |
| ENST00000472977.7:c.958T>C | ENSP00000475176.2:p.Cys320Arg | |
| ENST00000483930.2:c.*152T>C | ENSP00000475812.2:n.*152T>C | |
| ENST00000607427.2:c.958T>C | ENSP00000475557.2:p.Cys320Arg | |
| ENST00000679512.1:c.855T>C | ENSP00000505113.1:p.Ile285= | |
| ENST00000679898.1:c.685T>C | ENSP00000505326.1:p.Cys229Arg | |
| ENST00000680288.1:c.808T>C | ENSP00000506001.1:p.Cys270Arg | |
| ENST00000680311.1:c.*41T>C | ENSP00000505020.1:n.*41T>C | |
| ENST00000680471.1:c.*129T>C | ENSP00000506603.1:n.*129T>C | |
| ENST00000680664.1:c.781T>C | ENSP00000506248.1:p.Cys261Arg | |
| ENST00000680931.1:c.*308T>C | ENSP00000504934.1:n.*308T>C | |
| ENST00000681357.1:n.348T>C | ||
| ENST00000681444.1:c.958T>C | ENSP00000505359.1:p.Cys320Arg | |
| ENST00000368985.7:c.958T>C | ENSP00000357981.3:p.Cys320Arg | |
| ENST00000448301.6:c.808T>C | ENSP00000408414.1:p.Cys270Arg | |
| ENST00000472977.6:c.251T>C | ||
| ENST00000483930.1:c.506T>C | ENSP00000475812.1:n.506T>C | |
| NM_001199739.1:c.808T>C | NP_001186668.1:p.Cys270Arg | |
| NM_004079.4:c.958T>C | NP_004070.3:p.Cys320Arg | |
| NM_004079.5:c.958T>C MANE Select | NP_004070.3:p.Cys320Arg | |
| NM_001199739.2:c.808T>C | NP_001186668.1:p.Cys270Arg |