Linked Data
ClinVar Variation Id:
449574
dbSNP Id:
rs1268722908
gnomAD v2:
16-74808524-G-A
gnomAD v4:
16-74774626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774626G>A , CM000678.2:g.74774626G>A | GRCh38 |
| NC_000016.9:g.74808524G>A , CM000678.1:g.74808524G>A | GRCh37 |
| NC_000016.8:g.73366025G>A | NCBI36 |
| NG_017070.1:g.5206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.130C>T MANE Select | ENSP00000219368.3:p.Pro44Ser | |
| ENST00000219368.7:c.130C>T | ENSP00000219368.3:p.Pro44Ser | |
| ENST00000567683.5:c.130C>T | ENSP00000455126.1:p.Pro44Ser | |
| NM_024306.4:c.130C>T | NP_077282.3:p.Pro44Ser | |
| XM_011523317.1:c.130C>T | XP_011521619.1:p.Pro44Ser | |
| XM_011523318.1:c.130C>T | XP_011521620.1:p.Pro44Ser | |
| XM_011523317.3:c.130C>T | XP_011521619.1:p.Pro44Ser | |
| NM_024306.5:c.130C>T MANE Select | NP_077282.3:p.Pro44Ser |