Linked Data
ClinVar Variation Id:
331590
dbSNP Id:
rs548234328
gnomAD v2:
2-152693445-A-C
gnomAD v3:
2-151836931-A-C
gnomAD v4:
2-151836931-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151836931A>C , CM000664.2:g.151836931A>C | GRCh38 |
| NC_000002.11:g.152693445A>C , CM000664.1:g.152693445A>C | GRCh37 |
| NC_000002.10:g.152401691A>C | NCBI36 |
| NG_012641.1:g.267149T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.*2188T>G | ENSP00000443893.1:n.*2188T>G | |
| ENST00000539935.7:c.*2188T>G MANE Select | ENSP00000438949.1:n.*2188T>G | |
| ENST00000635738.1:c.*2966T>G | ENSP00000489881.1:n.*2966T>G | |
| ENST00000635890.1:c.2740T>G | ||
| ENST00000635930.1:c.*2781T>G | ENSP00000489953.1:n.*2781T>G | |
| ENST00000636024.1:c.184+4737T>G | ||
| ENST00000636130.1:c.*2188T>G | ENSP00000490607.1:n.*2188T>G | |
| ENST00000636350.1:c.*2188T>G | ENSP00000489621.1:n.*2188T>G | |
| ENST00000636442.1:c.*2188T>G | ENSP00000489779.1:n.*2188T>G | |
| ENST00000636507.1:c.*2966T>G | ENSP00000490252.1:n.*2966T>G | |
| ENST00000636598.1:c.*2188T>G | ENSP00000490247.1:n.*2188T>G | |
| ENST00000636617.1:c.*2188T>G | ENSP00000490660.1:n.*2188T>G | |
| ENST00000636773.1:c.*2188T>G | ENSP00000489818.1:n.*2188T>G | |
| ENST00000636785.1:c.*2188T>G | ENSP00000489788.1:n.*2188T>G | |
| ENST00000636831.1:n.5483T>G | ||
| ENST00000636901.1:c.*2188T>G | ENSP00000490145.1:n.*2188T>G | |
| ENST00000637217.1:c.*2188T>G | ENSP00000490250.1:n.*2188T>G | |
| ENST00000637224.1:c.*827+16517T>G | ENSP00000490276.1:n.*827+16517T>G | |
| ENST00000637232.1:c.*2577T>G | ENSP00000490138.1:n.*2577T>G | |
| ENST00000637309.1:c.*2436T>G | ENSP00000490127.1:n.*2436T>G | |
| ENST00000637547.1:c.*2188T>G | ENSP00000490124.1:n.*2188T>G | |
| ENST00000637559.1:c.*332+4972T>G | ENSP00000489697.1:n.*332+4972T>G | |
| ENST00000637942.1:n.3902T>G | ||
| ENST00000638005.1:c.*2188T>G | ENSP00000489677.1:n.*2188T>G | |
| ENST00000638091.1:c.*2188T>G | ENSP00000489967.1:n.*2188T>G | |
| ENST00000539935.5:c.*2188T>G | ENSP00000438949.1:n.*2188T>G | |
| NM_000726.3:c.*2188T>G | NP_000717.2:n.*2188T>G | |
| NM_001005746.2:c.*2188T>G | NP_001005746.1:n.*2188T>G | |
| NM_001005747.2:c.*2188T>G | NP_001005747.1:n.*2188T>G | |
| NM_001145798.1:c.*2188T>G | NP_001139270.1:n.*2188T>G | |
| XM_006712731.1:c.*2188T>G | XP_006712794.1:n.*2188T>G | |
| XM_011511795.1:c.*2188T>G | XP_011510097.1:n.*2188T>G | |
| XM_011511796.1:c.*2188T>G | XP_011510098.1:n.*2188T>G | |
| XM_011511797.1:c.*2188T>G | XP_011510099.1:n.*2188T>G | |
| XM_011511800.1:c.*2188T>G | XP_011510102.1:n.*2188T>G | |
| NM_000726.4:c.*2188T>G | NP_000717.2:n.*2188T>G | |
| NM_001005746.3:c.*2188T>G | NP_001005746.1:n.*2188T>G | |
| NM_001005747.3:c.*2188T>G | NP_001005747.1:n.*2188T>G | |
| NM_001145798.2:c.*2188T>G | NP_001139270.1:n.*2188T>G | |
| NM_001320722.2:c.*2188T>G | NP_001307651.1:n.*2188T>G | |
| NM_001330113.1:c.*2188T>G | NP_001317042.1:n.*2188T>G | |
| NM_001330114.1:c.*2188T>G | NP_001317043.1:n.*2188T>G | |
| NM_001330115.1:c.*2188T>G | NP_001317044.1:n.*2188T>G | |
| NM_001330116.1:c.*2188T>G | NP_001317045.1:n.*2188T>G | |
| NM_001330117.1:c.*2188T>G | NP_001317046.1:n.*2188T>G | |
| NM_001330118.1:c.*2188T>G | NP_001317047.1:n.*2188T>G | |
| XM_011511796.2:c.*2188T>G | XP_011510098.1:n.*2188T>G | |
| XM_011511797.3:c.*2188T>G | XP_011510099.1:n.*2188T>G | |
| XM_017004885.1:c.*2188T>G | XP_016860374.1:n.*2188T>G | |
| XM_024453128.1:c.*2188T>G | XP_024308896.1:n.*2188T>G | |
| XR_001738935.1:n.3719T>G | ||
| XR_001738937.2:n.3860T>G | ||
| XR_001738939.1:n.3829T>G | ||
| XR_001738940.2:n.3970T>G | ||
| NM_001005746.4:c.*2188T>G | NP_001005746.1:n.*2188T>G | |
| NM_001005747.4:c.*2188T>G | NP_001005747.1:n.*2188T>G | |
| NM_001320722.3:c.*2188T>G | NP_001307651.1:n.*2188T>G | |
| NM_001330113.2:c.*2188T>G | NP_001317042.1:n.*2188T>G | |
| NM_001330114.2:c.*2188T>G | NP_001317043.1:n.*2188T>G | |
| NM_001330115.2:c.*2188T>G | NP_001317044.1:n.*2188T>G | |
| NM_001330116.2:c.*2188T>G | NP_001317045.1:n.*2188T>G | |
| NM_001330117.2:c.*2188T>G | NP_001317046.1:n.*2188T>G | |
| NM_000726.5:c.*2188T>G MANE Select | NP_000717.2:n.*2188T>G |