Linked Data
ClinVar Variation Id:
320488
ClinVar RCV Id:
RCV000360954
dbSNP Id:
rs559457516
gnomAD v2:
16-74747938-G-A
gnomAD v3:
16-74714040-G-A
gnomAD v4:
16-74714040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74714040G>A , CM000678.2:g.74714040G>A | GRCh38 |
| NC_000016.9:g.74747938G>A , CM000678.1:g.74747938G>A | GRCh37 |
| NC_000016.8:g.73305439G>A | NCBI36 |
| NG_017070.1:g.65792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*150C>T MANE Select | ENSP00000219368.3:n.*150C>T | |
| ENST00000219368.7:c.*150C>T | ENSP00000219368.3:n.*150C>T | |
| ENST00000562145.1:n.990C>T | ||
| ENST00000567683.5:c.*548C>T | ENSP00000455126.1:n.*548C>T | |
| NM_024306.4:c.*150C>T | NP_077282.3:n.*150C>T | |
| XM_011523319.1:c.*150C>T | XP_011521621.1:n.*150C>T | |
| XM_011523319.2:c.*150C>T | XP_011521621.1:n.*150C>T | |
| NM_024306.5:c.*150C>T MANE Select | NP_077282.3:n.*150C>T |