Linked Data
ClinVar Variation Id:
331610
dbSNP Id:
rs13410490
gnomAD v2:
2-152694448-A-G
gnomAD v3:
2-151837934-A-G
gnomAD v4:
2-151837934-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151837934A>G , CM000664.2:g.151837934A>G | GRCh38 |
| NC_000002.11:g.152694448A>G , CM000664.1:g.152694448A>G | GRCh37 |
| NC_000002.10:g.152402694A>G | NCBI36 |
| NG_012641.1:g.266146T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.*1185T>C | ENSP00000443893.1:n.*1185T>C | |
| ENST00000539935.7:c.*1185T>C MANE Select | ENSP00000438949.1:n.*1185T>C | |
| ENST00000635738.1:c.*1963T>C | ENSP00000489881.1:n.*1963T>C | |
| ENST00000635803.1:n.2819T>C | ||
| ENST00000635890.1:c.1737T>C | ||
| ENST00000635930.1:c.*1778T>C | ENSP00000489953.1:n.*1778T>C | |
| ENST00000636024.1:c.184+3734T>C | ||
| ENST00000636130.1:c.*1185T>C | ENSP00000490607.1:n.*1185T>C | |
| ENST00000636350.1:c.*1185T>C | ENSP00000489621.1:n.*1185T>C | |
| ENST00000636442.1:c.*1185T>C | ENSP00000489779.1:n.*1185T>C | |
| ENST00000636507.1:c.*1963T>C | ENSP00000490252.1:n.*1963T>C | |
| ENST00000636598.1:c.*1185T>C | ENSP00000490247.1:n.*1185T>C | |
| ENST00000636617.1:c.*1185T>C | ENSP00000490660.1:n.*1185T>C | |
| ENST00000636762.1:c.*2150T>C | ENSP00000490918.1:n.*2150T>C | |
| ENST00000636773.1:c.*1185T>C | ENSP00000489818.1:n.*1185T>C | |
| ENST00000636785.1:c.*1185T>C | ENSP00000489788.1:n.*1185T>C | |
| ENST00000636831.1:n.4480T>C | ||
| ENST00000636901.1:c.*1185T>C | ENSP00000490145.1:n.*1185T>C | |
| ENST00000637132.1:c.*1778T>C | ENSP00000490651.1:n.*1778T>C | |
| ENST00000637217.1:c.*1185T>C | ENSP00000490250.1:n.*1185T>C | |
| ENST00000637224.1:c.*827+15514T>C | ENSP00000490276.1:n.*827+15514T>C | |
| ENST00000637232.1:c.*1574T>C | ENSP00000490138.1:n.*1574T>C | |
| ENST00000637309.1:c.*1433T>C | ENSP00000490127.1:n.*1433T>C | |
| ENST00000637312.1:c.*2017T>C | ENSP00000490144.1:n.*2017T>C | |
| ENST00000637436.1:c.*2566T>C | ENSP00000489746.1:n.*2566T>C | |
| ENST00000637547.1:c.*1185T>C | ENSP00000490124.1:n.*1185T>C | |
| ENST00000637550.1:c.*1574T>C | ENSP00000489943.1:n.*1574T>C | |
| ENST00000637559.1:c.*332+3969T>C | ENSP00000489697.1:n.*332+3969T>C | |
| ENST00000637762.1:c.*1185T>C | ENSP00000489876.1:n.*1185T>C | |
| ENST00000637942.1:n.2899T>C | ||
| ENST00000638005.1:c.*1185T>C | ENSP00000489677.1:n.*1185T>C | |
| ENST00000638091.1:c.*1185T>C | ENSP00000489967.1:n.*1185T>C | |
| ENST00000539935.5:c.*1185T>C | ENSP00000438949.1:n.*1185T>C | |
| NM_000726.3:c.*1185T>C | NP_000717.2:n.*1185T>C | |
| NM_001005746.2:c.*1185T>C | NP_001005746.1:n.*1185T>C | |
| NM_001005747.2:c.*1185T>C | NP_001005747.1:n.*1185T>C | |
| NM_001145798.1:c.*1185T>C | NP_001139270.1:n.*1185T>C | |
| XM_006712731.1:c.*1185T>C | XP_006712794.1:n.*1185T>C | |
| XM_011511795.1:c.*1185T>C | XP_011510097.1:n.*1185T>C | |
| XM_011511796.1:c.*1185T>C | XP_011510098.1:n.*1185T>C | |
| XM_011511797.1:c.*1185T>C | XP_011510099.1:n.*1185T>C | |
| XM_011511800.1:c.*1185T>C | XP_011510102.1:n.*1185T>C | |
| NM_000726.4:c.*1185T>C | NP_000717.2:n.*1185T>C | |
| NM_001005746.3:c.*1185T>C | NP_001005746.1:n.*1185T>C | |
| NM_001005747.3:c.*1185T>C | NP_001005747.1:n.*1185T>C | |
| NM_001145798.2:c.*1185T>C | NP_001139270.1:n.*1185T>C | |
| NM_001320722.2:c.*1185T>C | NP_001307651.1:n.*1185T>C | |
| NM_001330113.1:c.*1185T>C | NP_001317042.1:n.*1185T>C | |
| NM_001330114.1:c.*1185T>C | NP_001317043.1:n.*1185T>C | |
| NM_001330115.1:c.*1185T>C | NP_001317044.1:n.*1185T>C | |
| NM_001330116.1:c.*1185T>C | NP_001317045.1:n.*1185T>C | |
| NM_001330117.1:c.*1185T>C | NP_001317046.1:n.*1185T>C | |
| NM_001330118.1:c.*1185T>C | NP_001317047.1:n.*1185T>C | |
| XM_011511796.2:c.*1185T>C | XP_011510098.1:n.*1185T>C | |
| XM_011511797.3:c.*1185T>C | XP_011510099.1:n.*1185T>C | |
| XM_017004885.1:c.*1185T>C | XP_016860374.1:n.*1185T>C | |
| XM_024453128.1:c.*1185T>C | XP_024308896.1:n.*1185T>C | |
| XR_001738928.1:n.4606T>C | ||
| XR_001738935.1:n.2716T>C | ||
| XR_001738937.2:n.2857T>C | ||
| XR_001738938.2:n.3526T>C | ||
| XR_001738939.1:n.2826T>C | ||
| XR_001738940.2:n.2967T>C | ||
| XR_002959337.1:n.3136T>C | ||
| XR_002959338.1:n.3098T>C | ||
| XR_923022.3:n.2973T>C | ||
| NM_001005746.4:c.*1185T>C | NP_001005746.1:n.*1185T>C | |
| NM_001005747.4:c.*1185T>C | NP_001005747.1:n.*1185T>C | |
| NM_001320722.3:c.*1185T>C | NP_001307651.1:n.*1185T>C | |
| NM_001330113.2:c.*1185T>C | NP_001317042.1:n.*1185T>C | |
| NM_001330114.2:c.*1185T>C | NP_001317043.1:n.*1185T>C | |
| NM_001330115.2:c.*1185T>C | NP_001317044.1:n.*1185T>C | |
| NM_001330116.2:c.*1185T>C | NP_001317045.1:n.*1185T>C | |
| NM_001330117.2:c.*1185T>C | NP_001317046.1:n.*1185T>C | |
| NM_000726.5:c.*1185T>C MANE Select | NP_000717.2:n.*1185T>C |