Linked Data
dbSNP Id:
rs759267731
ExAC:
9:80409383 T / C
gnomAD v2:
9-80409383-T-C
gnomAD v3:
9-77794467-T-C
gnomAD v4:
9-77794467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794467T>C , CM000671.2:g.77794467T>C | GRCh38 |
| NC_000009.11:g.80409383T>C , CM000671.1:g.80409383T>C | GRCh37 |
| NC_000009.10:g.79599203T>C | NCBI36 |
| NG_027904.2:g.241837A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.731A>G MANE Select | ENSP00000286548.4:p.Asn244Ser | |
| ENST00000286548.8:c.731A>G | ENSP00000286548.4:p.Asn244Ser | |
| NM_002072.4:c.731A>G | NP_002063.2:p.Asn244Ser | |
| XM_017014628.2:c.557A>G | XP_016870117.1:p.Asn186Ser | |
| NM_002072.5:c.731A>G MANE Select | NP_002063.2:p.Asn244Ser |