Linked Data
ClinVar Variation Id:
515437
ClinVar RCV Id:
RCV000599680
dbSNP Id:
rs373868384
ExAC:
12:15815037 T / C
gnomAD v2:
12-15815037-T-C
gnomAD v3:
12-15662103-T-C
gnomAD v4:
12-15662103-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.15662103T>C , CM000674.2:g.15662103T>C | GRCh38 |
| NC_000012.11:g.15815037T>C , CM000674.1:g.15815037T>C | GRCh37 |
| NC_000012.10:g.15706304T>C | NCBI36 |
| NG_041808.1:g.132474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281172.10:c.737-4A>G MANE Select | ENSP00000281172.5:n.737-4A>G | |
| ENST00000642278.1:c.737-4A>G | ENSP00000494689.1:n.737-4A>G | |
| ENST00000642939.1:c.788-4A>G | ENSP00000495312.1:n.788-4A>G | |
| ENST00000644374.1:c.737-4A>G | ENSP00000495956.1:n.737-4A>G | |
| ENST00000645775.1:c.737-4A>G | ENSP00000495824.1:n.737-4A>G | |
| ENST00000646123.1:c.737-4A>G | ENSP00000494338.1:n.737-4A>G | |
| ENST00000646828.1:c.737-4A>G | ENSP00000494842.1:n.737-4A>G | |
| ENST00000646918.1:c.737-4A>G | ENSP00000495722.1:n.737-4A>G | |
| ENST00000647087.1:c.737-4A>G | ENSP00000496406.1:n.737-4A>G | |
| ENST00000647224.1:c.737-4A>G | ENSP00000496516.1:n.737-4A>G | |
| ENST00000281172.9:c.737-4A>G | ENSP00000281172.5:n.737-4A>G | |
| ENST00000535734.5:n.13A>G | ||
| ENST00000540613.5:c.-44-4A>G | ENSP00000441888.1:n.-44-4A>G | |
| ENST00000542903.1:c.-44-4A>G | ENSP00000437806.1:n.-44-4A>G | |
| ENST00000543468.5:c.600-4A>G | ENSP00000445985.1:n.600-4A>G | |
| ENST00000543523.5:c.737-4A>G | ENSP00000441867.1:n.737-4A>G | |
| ENST00000543612.5:c.737-4A>G | ENSP00000442388.1:n.737-4A>G | |
| ENST00000546261.1:c.288-4A>G | ||
| NM_004447.5:c.737-4A>G | NP_004438.3:n.737-4A>G | |
| XM_005253339.1:c.770-4A>G | XP_005253396.1:n.770-4A>G | |
| XM_005253340.1:c.737-4A>G | XP_005253397.1:n.737-4A>G | |
| XM_006719057.1:c.737-4A>G | XP_006719120.1:n.737-4A>G | |
| XM_011520605.1:c.797-4A>G | XP_011518907.1:n.797-4A>G | |
| XM_011520606.1:c.737-4A>G | XP_011518908.1:n.737-4A>G | |
| XM_011520605.3:c.797-4A>G | XP_011518907.1:n.797-4A>G | |
| XM_024448878.1:c.770-4A>G | XP_024304646.1:n.770-4A>G | |
| XM_024448879.1:c.737-4A>G | XP_024304647.1:n.737-4A>G | |
| XM_024448880.1:c.737-4A>G | XP_024304648.1:n.737-4A>G | |
| XM_024448881.1:c.737-4A>G | XP_024304649.1:n.737-4A>G | |
| XM_024448882.1:c.737-4A>G | XP_024304650.1:n.737-4A>G | |
| NM_004447.6:c.737-4A>G MANE Select | NP_004438.3:n.737-4A>G |