Linked Data
dbSNP Id:
rs367958075
ExAC:
10:72517774 C / T
gnomAD v2:
10-72517774-C-T
gnomAD v3:
10-70758018-C-T
gnomAD v4:
10-70758018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758018C>T , CM000672.2:g.70758018C>T | GRCh38 |
| NC_000010.10:g.72517774C>T , CM000672.1:g.72517774C>T | GRCh37 |
| NC_000010.9:g.72187780C>T | NCBI36 |
| NG_042147.1:g.90216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.2994C>T MANE Select | ENSP00000362303.1:p.Asn998= | |
| ENST00000373207.1:c.2994C>T | ENSP00000362303.1:p.Asn998= | |
| ENST00000373208.5:c.3003C>T | ENSP00000362304.1:p.Asn1001= | |
| NM_080722.3:c.2994C>T | NP_542453.2:p.Asn998= | |
| NM_139155.2:c.3003C>T | NP_631894.2:p.Asn1001= | |
| XM_011539300.1:c.2493C>T | XP_011537602.1:p.Asn831= | |
| XM_011539301.1:c.2067C>T | XP_011537603.1:p.Asn689= | |
| XM_011539302.1:c.2067C>T | XP_011537604.1:p.Asn689= | |
| XM_011539308.1:c.*73C>T | XP_011537610.1:n.*73C>T | |
| XM_011539309.1:c.1563C>T | XP_011537611.1:p.Asn521= | |
| NM_080722.4:c.2994C>T MANE Select | NP_542453.2:p.Asn998= | |
| NM_139155.3:c.3003C>T | NP_631894.2:p.Asn1001= | |
| XM_011539300.2:c.2493C>T | XP_011537602.1:p.Asn831= | |
| XM_011539301.2:c.2067C>T | XP_011537603.1:p.Asn689= | |
| XM_011539302.2:c.2067C>T | XP_011537604.1:p.Asn689= | |
| XM_011539308.2:c.*73C>T | XP_011537610.1:n.*73C>T |