Linked Data
dbSNP Id:
rs757896210
ExAC:
10:73767556 A / C
gnomAD v2:
10-73767556-A-C
gnomAD v4:
10-72007798-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007798A>C , CM000672.2:g.72007798A>C | GRCh38 |
| NC_000010.10:g.73767556A>C , CM000672.1:g.73767556A>C | GRCh37 |
| NC_000010.9:g.73437562A>C | NCBI36 |
| NG_012635.1:g.48437A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.767A>C MANE Select | ENSP00000362207.4:p.Asn256Thr | |
| ENST00000373115.4:c.767A>C | ENSP00000362207.4:p.Asn256Thr | |
| NM_004273.4:c.767A>C | NP_004264.2:p.Asn256Thr | |
| XM_006718075.2:c.767A>C | XP_006718138.1:p.Asn256Thr | |
| XM_011540369.1:c.767A>C | XP_011538671.1:p.Asn256Thr | |
| XM_006718075.4:c.767A>C | XP_006718138.1:p.Asn256Thr | |
| XM_011540369.2:c.767A>C | XP_011538671.1:p.Asn256Thr | |
| NM_004273.5:c.767A>C MANE Select | NP_004264.2:p.Asn256Thr |