Linked Data
dbSNP Id:
rs966108967
gnomAD v2:
19-16548215-G-A
gnomAD v3:
19-16437404-G-A
gnomAD v4:
19-16437404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16437404G>A , CM000681.2:g.16437404G>A | GRCh38 |
| NC_000019.9:g.16548215G>A , CM000681.1:g.16548215G>A | GRCh37 |
| NC_000019.8:g.16409215G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455140.7:c.309+366C>T MANE Select | ENSP00000393313.1:n.309+366C>T | |
| ENST00000248070.10:c.309+366C>T | ENSP00000248070.5:n.309+366C>T | |
| ENST00000455140.6:c.309+366C>T | ENSP00000393313.1:n.309+366C>T | |
| ENST00000535753.6:c.309+366C>T | ENSP00000440103.1:n.309+366C>T | |
| ENST00000592031.5:c.*46+366C>T | ENSP00000465286.2:n.*46+366C>T | |
| ENST00000593760.5:c.166-2921C>T | ENSP00000472958.1:n.166-2921C>T | |
| ENST00000594975.5:c.309+366C>T | ENSP00000471662.1:n.309+366C>T | |
| ENST00000596037.5:c.310-340C>T | ENSP00000472135.1:n.310-340C>T | |
| ENST00000597559.5:n.339+366C>T | ||
| ENST00000597937.5:c.309+366C>T | ENSP00000472267.1:n.309+366C>T | |
| ENST00000602022.5:c.309+366C>T | ENSP00000471981.1:n.309+366C>T | |
| NM_001258374.1:c.309+366C>T | NP_001245303.1:n.309+366C>T | |
| NM_001258375.1:c.309+366C>T | NP_001245304.1:n.309+366C>T | |
| NM_001258376.1:c.309+366C>T | NP_001245305.1:n.309+366C>T | |
| NM_021235.2:c.309+366C>T | NP_067058.1:n.309+366C>T | |
| NR_047665.1:n.376+366C>T | ||
| NR_047666.1:n.353+366C>T | ||
| XM_017027086.2:c.309+366C>T | XP_016882575.1:n.309+366C>T | |
| XM_017027087.2:c.309+366C>T | XP_016882576.1:n.309+366C>T | |
| XM_017027088.2:c.309+366C>T | XP_016882577.1:n.309+366C>T | |
| XM_017027089.2:c.309+366C>T | XP_016882578.1:n.309+366C>T | |
| XM_017027090.2:c.309+366C>T | XP_016882579.1:n.309+366C>T | |
| XM_017027091.2:c.309+366C>T | XP_016882580.1:n.309+366C>T | |
| XM_017027092.2:c.309+366C>T | XP_016882581.1:n.309+366C>T | |
| NM_001258374.2:c.309+366C>T | NP_001245303.1:n.309+366C>T | |
| NM_001258374.3:c.309+366C>T MANE Select | NP_001245303.1:n.309+366C>T | |
| NM_001258375.2:c.309+366C>T | NP_001245304.1:n.309+366C>T | |
| NM_001258376.2:c.309+366C>T | NP_001245305.1:n.309+366C>T | |
| NM_021235.3:c.309+366C>T | NP_067058.1:n.309+366C>T | |
| NR_047665.2:n.334+366C>T |