Linked Data
dbSNP Id:
rs754897235
ExAC:
6:167438318 T / C
gnomAD v2:
6-167438318-T-C
gnomAD v4:
6-167024830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167024830T>C , CM000668.2:g.167024830T>C | GRCh38 |
| NC_000006.11:g.167438318T>C , CM000668.1:g.167438318T>C | GRCh37 |
| NC_000006.10:g.167358308T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349556.5:c.795T>C | ENSP00000230248.6:p.Asp265= | |
| ENST00000488525.2:c.851T>C | ENSP00000516042.1:p.Met284Thr | |
| ENST00000609590.2:n.1727T>C | ||
| ENST00000704900.1:c.432T>C | ENSP00000516059.1:p.Asp144= | |
| ENST00000704901.1:c.*442T>C | ENSP00000516060.1:n.*442T>C | |
| ENST00000704959.1:n.1120T>C | ||
| ENST00000704982.1:n.1565T>C | ||
| ENST00000704985.1:n.1961T>C | ||
| ENST00000704986.1:n.1961T>C | ||
| ENST00000705029.1:n.1686T>C | ||
| ENST00000705059.1:n.1510T>C | ||
| ENST00000705168.1:c.108T>C | ENSP00000516071.1:p.Asp36= | |
| ENST00000705169.1:c.108T>C | ENSP00000516072.1:p.Asp36= | |
| ENST00000705170.1:c.108T>C | ENSP00000516073.1:p.Asp36= | |
| ENST00000705171.1:n.900T>C | ||
| ENST00000705173.1:c.*164T>C | ENSP00000516075.1:n.*164T>C | |
| ENST00000705175.1:c.981T>C | ENSP00000516077.1:p.Asp327= | |
| ENST00000705176.1:c.1041T>C | ENSP00000516078.1:p.Asp347= | |
| ENST00000705177.1:c.*439T>C | ENSP00000516079.1:n.*439T>C | |
| ENST00000705178.1:c.378T>C | ENSP00000516080.1:p.Asp126= | |
| ENST00000705179.1:c.573T>C | ENSP00000516081.1:p.Asp191= | |
| ENST00000705180.1:c.513T>C | ENSP00000516082.1:p.Asp171= | |
| ENST00000705235.1:c.855T>C | ENSP00000516093.1:p.Asp285= | |
| ENST00000705236.1:c.795T>C | ENSP00000516094.1:p.Asp265= | |
| ENST00000705237.1:c.513T>C | ENSP00000516095.1:p.Asp171= | |
| ENST00000705238.1:c.714T>C | ENSP00000516096.1:p.Asp238= | |
| ENST00000705239.1:c.792T>C | ENSP00000516097.1:p.Asp264= | |
| ENST00000705240.1:c.*464T>C | ENSP00000516098.1:n.*464T>C | |
| ENST00000705241.1:c.791T>C | ENSP00000516099.1:p.Met264Thr | |
| ENST00000705242.1:c.792T>C | ENSP00000516100.1:p.Asp264= | |
| ENST00000705249.1:c.795T>C | ENSP00000516101.1:p.Asp265= | |
| ENST00000705250.1:c.573T>C | ENSP00000516102.1:p.Asp191= | |
| ENST00000705251.1:c.*442T>C | ENSP00000516103.1:n.*442T>C | |
| ENST00000705252.1:c.*265T>C | ENSP00000516104.1:n.*265T>C | |
| ENST00000705253.1:c.*265T>C | ENSP00000516105.1:n.*265T>C | |
| ENST00000705254.1:c.402T>C | ENSP00000516106.1:p.Asp134= | |
| ENST00000705255.1:n.1421T>C | ||
| ENST00000705256.1:c.852T>C | ENSP00000516107.1:p.Asp284= | |
| ENST00000366847.9:c.855T>C MANE Select | ENSP00000355812.3:p.Asp285= | |
| ENST00000349556.4:c.795T>C | ENSP00000230248.6:p.Asp265= | |
| ENST00000366847.8:c.855T>C | ENSP00000355812.3:p.Asp285= | |
| ENST00000488525.1:n.41T>C | ||
| ENST00000496181.1:n.259T>C | ||
| ENST00000622353.4:c.714T>C | ENSP00000479115.1:p.Asp238= | |
| NM_001278690.1:c.714T>C | NP_001265619.1:p.Asp238= | |
| NM_007045.3:c.855T>C | NP_008976.1:p.Asp285= | |
| NM_194429.2:c.795T>C | NP_919410.1:p.Asp265= | |
| NM_007045.4:c.855T>C MANE Select | NP_008976.1:p.Asp285= | |
| NM_194429.3:c.795T>C | NP_919410.1:p.Asp265= | |
| NM_001278690.2:c.714T>C | NP_001265619.1:p.Asp238= |