Linked Data
ClinVar Variation Id:
360289
dbSNP Id:
rs886062346
gnomAD v2:
7-44184014-G-A
gnomAD v3:
7-44144415-G-A
gnomAD v4:
7-44144415-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44144415G>A , CM000669.2:g.44144415G>A | GRCh38 |
| NC_000007.13:g.44184014G>A , CM000669.1:g.44184014G>A | GRCh37 |
| NC_000007.12:g.44150539G>A | NCBI36 |
| NG_008847.1:g.50009C>T | |
| NG_008847.2:g.58756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*2117C>T | ENSP00000379142.4:n.*2117C>T | |
| ENST00000616242.5:c.*1239C>T | ENSP00000482149.2:n.*1239C>T | |
| ENST00000683378.1:n.1345C>T | ||
| ENST00000336642.9:c.*721C>T | ENSP00000338009.5:n.*721C>T | |
| ENST00000345378.7:c.*721C>T | ENSP00000223366.2:n.*721C>T | |
| ENST00000403799.8:c.*721C>T MANE Select | ENSP00000384247.3:n.*721C>T | |
| ENST00000671824.1:c.*721C>T | ENSP00000500264.1:n.*721C>T | |
| ENST00000672743.1:n.382-179C>T | ||
| ENST00000673284.1:c.1370-179C>T | ENSP00000499852.1:n.1370-179C>T | |
| ENST00000336642.8:c.1171C>T | ENSP00000338009.4:n.1171C>T | |
| ENST00000345378.6:c.*721C>T | ENSP00000223366.2:n.*721C>T | |
| ENST00000395796.7:c.*721C>T | ENSP00000379142.3:n.*721C>T | |
| ENST00000403799.7:c.*721C>T | ENSP00000384247.3:n.*721C>T | |
| ENST00000459642.1:n.1499C>T | ||
| ENST00000616242.4:c.2116C>T | ENSP00000482149.1:n.2116C>T | |
| NM_000162.3:c.*721C>T | NP_000153.1:n.*721C>T | |
| NM_033507.1:c.*721C>T | NP_277042.1:n.*721C>T | |
| NM_033508.1:c.*721C>T | NP_277043.1:n.*721C>T | |
| NM_000162.4:c.*721C>T | NP_000153.1:n.*721C>T | |
| NM_001354800.1:c.1370-179C>T | NP_001341729.1:n.1370-179C>T | |
| NM_001354801.1:c.*721C>T | NP_001341730.1:n.*721C>T | |
| NM_001354802.1:c.230-179C>T | NP_001341731.1:n.230-179C>T | |
| NM_001354803.1:c.*721C>T | NP_001341732.1:n.*721C>T | |
| NM_033507.2:c.*721C>T | NP_277042.1:n.*721C>T | |
| NM_033508.2:c.*721C>T | NP_277043.1:n.*721C>T | |
| XM_024446707.1:c.*721C>T | XP_024302475.1:n.*721C>T | |
| NM_000162.5:c.*721C>T MANE Select | NP_000153.1:n.*721C>T | |
| NM_033507.3:c.*721C>T | NP_277042.1:n.*721C>T | |
| NM_033508.3:c.*721C>T | NP_277043.1:n.*721C>T | |
| NM_001354803.2:c.*721C>T | NP_001341732.1:n.*721C>T |