Linked Data
dbSNP Id:
rs61736324
gnomAD v4:
19-7690541-C-G
MyVariant Identifiers:
chr19:g.7755427C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690541C>G , CM000681.2:g.7690541C>G | GRCh38 |
| NC_000019.9:g.7755427C>G , CM000681.1:g.7755427C>G | GRCh37 |
| NC_000019.8:g.7661427C>G | NCBI36 |
| NG_029554.1:g.16606G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.486G>C MANE Select | ENSP00000471974.1:p.Thr162= | |
| ENST00000346664.9:c.486G>C | ENSP00000264072.6:p.Thr162= | |
| ENST00000360067.8:c.483G>C | ENSP00000353178.4:p.Thr161= | |
| ENST00000593418.1:c.423G>C | ENSP00000472067.1:p.Thr141= | |
| ENST00000597312.5:n.1011G>C | ||
| ENST00000597921.5:c.486G>C | ENSP00000471974.1:p.Thr162= | |
| ENST00000597934.1:n.848G>C | ||
| ENST00000598803.5:n.981G>C | ||
| NM_001207019.2:c.483G>C | NP_001193948.2:p.Thr161= | |
| NM_001220500.1:c.486G>C | NP_001207429.1:p.Thr162= | |
| NM_002002.4:c.486G>C | NP_001993.2:p.Thr162= | |
| XM_005272462.3:c.486G>C | XP_005272519.1:p.Thr162= | |
| XM_005272462.4:c.486G>C | XP_005272519.1:p.Thr162= | |
| NM_001220500.2:c.486G>C MANE Select | NP_001207429.1:p.Thr162= | |
| NM_001207019.3:c.483G>C | NP_001193948.2:p.Thr161= | |
| NM_002002.5:c.486G>C | NP_001993.2:p.Thr162= |