Linked Data
ClinVar Variation Id:
579475
ClinVar RCV Id:
RCV001371426
dbSNP Id:
rs372787642
gnomAD v2:
11-6638228-T-G
gnomAD v4:
11-6616997-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616997T>G , CM000673.2:g.6616997T>G | GRCh38 |
| NC_000011.9:g.6638228T>G , CM000673.1:g.6638228T>G | GRCh37 |
| NC_000011.8:g.6594804T>G | NCBI36 |
| NG_008653.1:g.7465A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.551A>C | ENSP00000507321.1:p.Asn184Thr | |
| ENST00000299427.12:c.665A>C MANE Select | ENSP00000299427.6:p.Asn222Thr | |
| ENST00000436873.7:c.312+304A>C | ||
| ENST00000524788.2:n.1824A>C | ||
| ENST00000524903.2:n.1940A>C | ||
| ENST00000528807.2:n.321A>C | ||
| ENST00000530040.2:n.479+362A>C | ||
| ENST00000533371.6:c.-65A>C | ENSP00000437066.1:n.-65A>C | |
| ENST00000534644.6:n.613A>C | ||
| ENST00000642892.1:c.-65A>C | ENSP00000494165.1:n.-65A>C | |
| ENST00000643439.1:c.*405A>C | ENSP00000495849.1:n.*405A>C | |
| ENST00000643479.1:n.694A>C | ||
| ENST00000643516.1:c.395+304A>C | ||
| ENST00000644151.1:n.2104A>C | ||
| ENST00000644218.1:c.665A>C | ENSP00000493574.1:p.Asn222Thr | |
| ENST00000644683.1:c.*118A>C | ENSP00000494085.1:n.*118A>C | |
| ENST00000644810.1:c.386A>C | ENSP00000495895.1:p.Asn129Thr | |
| ENST00000644831.1:n.841A>C | ||
| ENST00000644933.1:c.-65A>C | ENSP00000496133.1:n.-65A>C | |
| ENST00000645020.1:n.1840A>C | ||
| ENST00000645285.1:c.-65A>C | ENSP00000495058.1:n.-65A>C | |
| ENST00000645331.1:n.1031A>C | ||
| ENST00000645620.1:c.-65A>C | ENSP00000493657.1:n.-65A>C | |
| ENST00000646777.1:n.841A>C | ||
| ENST00000647016.1:n.1145A>C | ||
| ENST00000647152.1:c.-65A>C | ENSP00000495893.1:n.-65A>C | |
| ENST00000647209.1:c.*534A>C | ENSP00000495558.1:n.*534A>C | |
| ENST00000647346.1:n.1685A>C | ||
| ENST00000299427.10:c.665A>C | ENSP00000299427.6:p.Asn222Thr | |
| ENST00000428886.6:n.834A>C | ||
| ENST00000436873.6:c.450+362A>C | ENSP00000398136.2:n.450+362A>C | |
| ENST00000524788.1:n.365A>C | ||
| ENST00000528571.5:c.*405A>C | ENSP00000434647.1:n.*405A>C | |
| ENST00000528807.1:n.215A>C | ||
| ENST00000533371.5:c.-65A>C | ENSP00000437066.1:n.-65A>C | |
| ENST00000611494.4:c.665A>C | ENSP00000484546.1:p.Asn222Thr | |
| NM_000391.3:c.665A>C | NP_000382.3:p.Asn222Thr | |
| NM_000391.4:c.665A>C MANE Select | NP_000382.3:p.Asn222Thr |