Linked Data
dbSNP Id:
rs750373604
ExAC:
1:150705610 T / G
gnomAD v2:
1-150705610-T-G
gnomAD v3:
1-150733134-T-G
gnomAD v4:
1-150733134-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150733134T>G , CM000663.2:g.150733134T>G | GRCh38 |
| NC_000001.10:g.150705610T>G , CM000663.1:g.150705610T>G | GRCh37 |
| NC_000001.9:g.148972234T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368985.8:c.908A>C MANE Select | ENSP00000357981.3:p.Asn303Thr | |
| ENST00000448301.7:c.680A>C | ENSP00000408414.2:p.Asn227Thr | |
| ENST00000472977.7:c.908A>C | ENSP00000475176.2:p.Asn303Thr | |
| ENST00000483930.2:c.*102A>C | ENSP00000475812.2:n.*102A>C | |
| ENST00000607427.2:c.908A>C | ENSP00000475557.2:p.Asn303Thr | |
| ENST00000679512.1:c.805A>C | ENSP00000505113.1:p.Thr269Pro | |
| ENST00000679898.1:c.635A>C | ENSP00000505326.1:p.Asn212Thr | |
| ENST00000680288.1:c.758A>C | ENSP00000506001.1:p.Asn253Thr | |
| ENST00000680311.1:c.639A>C | ENSP00000505020.1:p.Gln213His | |
| ENST00000680471.1:c.*79A>C | ENSP00000506603.1:n.*79A>C | |
| ENST00000680664.1:c.731A>C | ENSP00000506248.1:p.Asn244Thr | |
| ENST00000680931.1:c.*258A>C | ENSP00000504934.1:n.*258A>C | |
| ENST00000681357.1:n.298A>C | ||
| ENST00000681444.1:c.908A>C | ENSP00000505359.1:p.Asn303Thr | |
| ENST00000368985.7:c.908A>C | ENSP00000357981.3:p.Asn303Thr | |
| ENST00000448301.6:c.758A>C | ENSP00000408414.1:p.Asn253Thr | |
| ENST00000472977.6:c.201A>C | ||
| ENST00000483930.1:c.456A>C | ENSP00000475812.1:n.456A>C | |
| NM_001199739.1:c.758A>C | NP_001186668.1:p.Asn253Thr | |
| NM_004079.4:c.908A>C | NP_004070.3:p.Asn303Thr | |
| NM_004079.5:c.908A>C MANE Select | NP_004070.3:p.Asn303Thr | |
| NM_001199739.2:c.758A>C | NP_001186668.1:p.Asn253Thr |