Linked Data
dbSNP Id:
rs201795161
gnomAD v2:
19-18707842-G-T
gnomAD v3:
19-18597032-G-T
gnomAD v4:
19-18597032-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18597032G>T , CM000681.2:g.18597032G>T | GRCh38 |
| NC_000019.9:g.18707842G>T , CM000681.1:g.18707842G>T | GRCh37 |
| NC_000019.8:g.18568842G>T | NCBI36 |
| NG_013370.1:g.14819C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.715C>A | ENSP00000506849.1:p.Pro239Thr | |
| ENST00000392386.8:c.715C>A MANE Select | ENSP00000376188.2:p.Pro239Thr | |
| ENST00000392386.7:c.715C>A | ENSP00000376188.2:p.Pro239Thr | |
| ENST00000597131.1:c.180C>A | ||
| NM_004750.4:c.715C>A | NP_004741.1:p.Pro239Thr | |
| XM_011528422.1:c.649C>A | XP_011526724.1:p.Pro217Thr | |
| XM_011528423.1:c.715C>A | XP_011526725.1:p.Pro239Thr | |
| XM_011528424.1:c.649C>A | XP_011526726.1:p.Pro217Thr | |
| XM_011528422.2:c.649C>A | XP_011526724.1:p.Pro217Thr | |
| XM_011528423.2:c.715C>A | XP_011526725.1:p.Pro239Thr | |
| XM_011528424.3:c.649C>A | XP_011526726.1:p.Pro217Thr | |
| NM_004750.5:c.715C>A MANE Select | NP_004741.1:p.Pro239Thr |