Linked Data
dbSNP Id:
rs919187134
gnomAD v2:
19-6713441-G-A
gnomAD v3:
19-6713430-G-A
gnomAD v4:
19-6713430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713430G>A , CM000681.2:g.6713430G>A | GRCh38 |
| NC_000019.9:g.6713441G>A , CM000681.1:g.6713441G>A | GRCh37 |
| NC_000019.8:g.6664441G>A | NCBI36 |
| NG_009557.1:g.12222C>T , LRG_27:g.12222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.730C>T | ENSP00000512083.1:p.Pro244Ser | |
| ENST00000695692.1:n.177C>T | ||
| ENST00000245907.11:c.853C>T MANE Select | ENSP00000245907.4:p.Pro285Ser | |
| ENST00000245907.10:c.853C>T | ENSP00000245907.4:p.Pro285Ser | |
| ENST00000595577.1:n.357C>T | ||
| ENST00000597442.5:n.103C>T | ||
| NM_000064.3:c.853C>T | NP_000055.2:p.Pro285Ser | |
| NM_000064.4:c.853C>T MANE Select | NP_000055.2:p.Pro285Ser |