Linked Data
dbSNP Id:
rs768895144
ExAC:
16:89986182 T / C
gnomAD v2:
16-89986182-T-C
gnomAD v4:
16-89919774-T-C
MyVariant Identifiers:
chr16:g.89986182T>C (hg19)
chr16:g.89986182_89986185delinsCGTC (hg19)
chr16:g.89919774T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919774T>C , CM000678.2:g.89919774T>C | GRCh38 |
| NC_000016.9:g.89986182T>C , CM000678.1:g.89986182T>C | GRCh37 |
| NC_000016.8:g.88513683T>C | NCBI36 |
| NG_012026.1:g.6896T>C | |
| NG_027810.1:g.2766T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.516T>C MANE Select | ENSP00000451605.1:p.Ser172= | |
| ENST00000639847.1:c.516T>C | ENSP00000492011.1:p.Ser172= | |
| ENST00000555147.1:c.516T>C | ENSP00000451605.1:p.Ser172= | |
| ENST00000555427.1:c.516T>C | ENSP00000451760.1:p.Ser172= | |
| ENST00000556922.1:c.516T>C | ENSP00000451560.1:p.Ser172= | |
| NM_002386.3:c.516T>C | NP_002377.4:p.Ser172= | |
| NM_002386.4:c.516T>C MANE Select | NP_002377.4:p.Ser172= |