Linked Data
dbSNP Id:
rs755270091
ExAC:
16:67973896 C / T
gnomAD v2:
16-67973896-C-T
gnomAD v4:
16-67939993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939993C>T , CM000678.2:g.67939993C>T | GRCh38 |
| NC_000016.9:g.67973896C>T , CM000678.1:g.67973896C>T | GRCh37 |
| NC_000016.8:g.66531397C>T | NCBI36 |
| NG_009778.1:g.9120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1234G>A MANE Select | ENSP00000264005.5:p.Glu412Lys | |
| ENST00000264005.9:c.1234G>A | ENSP00000264005.5:p.Glu412Lys | |
| ENST00000570369.5:c.237G>A | ||
| ENST00000573538.5:c.972G>A | ENSP00000463220.1:n.972G>A | |
| NM_000229.1:c.1234G>A | NP_000220.1:p.Glu412Lys | |
| NM_000229.2:c.1234G>A MANE Select | NP_000220.1:p.Glu412Lys |