Linked Data
ClinVar Variation Id:
336138
ClinVar RCV Id:
RCV000404534
dbSNP Id:
rs886056051
gnomAD v2:
2-44115254-G-A
gnomAD v3:
2-43888115-G-A
gnomAD v4:
2-43888115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43888115G>A , CM000664.2:g.43888115G>A | GRCh38 |
| NC_000002.11:g.44115254G>A , CM000664.1:g.44115254G>A | GRCh37 |
| NC_000002.10:g.43968758G>A | NCBI36 |
| NG_008247.1:g.112891C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.2222C>T | ||
| ENST00000682154.1:n.2104C>T | ||
| ENST00000682308.1:c.*485C>T | ENSP00000507056.1:n.*485C>T | |
| ENST00000682353.1:n.3155C>T | ||
| ENST00000682546.1:c.*485C>T | ENSP00000508188.1:n.*485C>T | |
| ENST00000682585.1:c.*798C>T | ENSP00000506885.1:n.*798C>T | |
| ENST00000682607.1:c.3413C>T | ||
| ENST00000682612.1:c.1437C>T | ||
| ENST00000682696.1:c.822C>T | ENSP00000508411.1:n.822C>T | |
| ENST00000682779.1:c.*485C>T | ENSP00000507947.1:n.*485C>T | |
| ENST00000683002.1:c.1662C>T | ||
| ENST00000683080.1:n.2289C>T | ||
| ENST00000683125.1:c.*485C>T | ENSP00000507939.1:n.*485C>T | |
| ENST00000683213.1:c.*485C>T | ENSP00000507751.1:n.*485C>T | |
| ENST00000683220.1:c.*485C>T | ENSP00000507151.1:n.*485C>T | |
| ENST00000683409.1:n.3202C>T | ||
| ENST00000683459.1:n.5257C>T | ||
| ENST00000683590.1:c.*485C>T | ENSP00000506820.1:n.*485C>T | |
| ENST00000683623.1:c.*485C>T | ENSP00000507702.1:n.*485C>T | |
| ENST00000683796.1:c.*4467C>T | ENSP00000508221.1:n.*4467C>T | |
| ENST00000683833.1:c.*485C>T | ENSP00000506852.1:n.*485C>T | |
| ENST00000683994.1:c.*783C>T | ENSP00000507181.1:n.*783C>T | |
| ENST00000684306.1:c.*4583C>T | ENSP00000508384.1:n.*4583C>T | |
| ENST00000684418.1:n.5851C>T | ||
| ENST00000684433.1:n.1054C>T | ||
| ENST00000684454.1:n.8534C>T | ||
| ENST00000684619.1:c.*4542C>T | ENSP00000508088.1:n.*4542C>T | |
| ENST00000260665.12:c.*485C>T MANE Select | ENSP00000260665.7:n.*485C>T | |
| ENST00000260665.11:c.*485C>T | ENSP00000260665.7:n.*485C>T | |
| NM_133259.3:c.*485C>T | NP_573566.2:n.*485C>T | |
| XM_006711915.2:c.*485C>T | XP_006711978.1:n.*485C>T | |
| XM_011532473.1:c.*485C>T | XP_011530775.1:n.*485C>T | |
| XM_017003117.1:c.*485C>T | XP_016858606.1:n.*485C>T | |
| XR_002958896.1:n.4852C>T | ||
| NM_133259.4:c.*485C>T MANE Select | NP_573566.2:n.*485C>T |