Linked Data
dbSNP Id:
rs766583689
ExAC:
9:140093760 T / C
gnomAD v2:
9-140093760-T-C
gnomAD v4:
9-137199308-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199308T>C , CM000671.2:g.137199308T>C | GRCh38 |
| NC_000009.11:g.140093760T>C , CM000671.1:g.140093760T>C | GRCh37 |
| NC_000009.10:g.139213581T>C | NCBI36 |
| NG_027801.1:g.6404A>G | |
| NG_027801.2:g.9886A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1404A>G MANE Select | ENSP00000387100.4:p.Gln468= | |
| ENST00000333046.8:c.798A>G | ENSP00000327617.4:p.Gln266= | |
| ENST00000409012.4:c.1404A>G | ENSP00000387100.4:p.Gln468= | |
| ENST00000541945.1:n.90+4796A>G | ||
| NM_001128228.2:c.1404A>G | NP_001121700.2:p.Gln468= | |
| NM_001128228.3:c.1404A>G MANE Select | NP_001121700.2:p.Gln468= |