Linked Data
dbSNP Id:
rs377313060
ExAC:
9:140093884 G / C
gnomAD v2:
9-140093884-G-C
gnomAD v3:
9-137199432-G-C
gnomAD v4:
9-137199432-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199432G>C , CM000671.2:g.137199432G>C | GRCh38 |
| NC_000009.11:g.140093884G>C , CM000671.1:g.140093884G>C | GRCh37 |
| NC_000009.10:g.139213705G>C | NCBI36 |
| NG_027801.1:g.6280C>G | |
| NG_027801.2:g.9762C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1280C>G MANE Select | ENSP00000387100.4:p.Ser427Trp | |
| ENST00000333046.8:c.674C>G | ENSP00000327617.4:p.Ser225Trp | |
| ENST00000409012.4:c.1280C>G | ENSP00000387100.4:p.Ser427Trp | |
| ENST00000541945.1:n.90+4672C>G | ||
| NM_001128228.2:c.1280C>G | NP_001121700.2:p.Ser427Trp | |
| NM_001128228.3:c.1280C>G MANE Select | NP_001121700.2:p.Ser427Trp |