Linked Data
dbSNP Id:
rs751340896
ExAC:
16:2035980 A / C
gnomAD v2:
16-2035980-A-C
gnomAD v4:
16-1985979-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985979A>C , CM000678.2:g.1985979A>C | GRCh38 |
| NC_000016.9:g.2035980A>C , CM000678.1:g.2035980A>C | GRCh37 |
| NC_000016.8:g.1975981A>C | NCBI36 |
| NG_016288.1:g.6831A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.344A>C | ENSP00000455885.1:p.Lys115Thr | |
| ENST00000248114.7:c.569A>C MANE Select | ENSP00000248114.6:p.Lys190Thr | |
| ENST00000248114.6:c.569A>C | ENSP00000248114.6:p.Lys190Thr | |
| ENST00000565658.1:n.726A>C | ||
| ENST00000567719.1:c.344A>C | ENSP00000455885.1:p.Lys115Thr | |
| ENST00000569451.1:c.*42A>C | ENSP00000456432.1:n.*42A>C | |
| NM_005262.2:c.569A>C | NP_005253.3:p.Lys190Thr | |
| NM_005262.3:c.569A>C MANE Select | NP_005253.3:p.Lys190Thr |