Linked Data
ClinVar Variation Id:
295639
dbSNP Id:
rs886046018
gnomAD v2:
1-220325114-T-C
gnomAD v4:
1-220151772-T-C
COSMIC:
COSM4779167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220151772T>C , CM000663.2:g.220151772T>C | GRCh38 |
| NC_000001.10:g.220325114T>C , CM000663.1:g.220325114T>C | GRCh37 |
| NC_000001.9:g.218391737T>C | NCBI36 |
| NG_015837.1:g.125730A>G | |
| NG_015837.2:g.125730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.1860-8A>G | ||
| ENST00000491005.6:n.4894-8A>G | ||
| ENST00000491305.2:n.4363-8A>G | ||
| ENST00000685286.1:c.*1193-8A>G | ENSP00000509457.1:n.*1193-8A>G | |
| ENST00000685664.1:c.3868-8A>G | ENSP00000509121.1:n.3868-8A>G | |
| ENST00000686381.1:c.3604-8A>G | ENSP00000509555.1:n.3604-8A>G | |
| ENST00000687065.1:c.3604-8A>G | ENSP00000510408.1:n.3604-8A>G | |
| ENST00000687647.1:c.3604-8A>G | ENSP00000509205.1:n.3604-8A>G | |
| ENST00000688035.1:n.6878-8A>G | ||
| ENST00000690315.1:c.3769-8A>G | ENSP00000509834.1:n.3769-8A>G | |
| ENST00000690373.1:n.4207-8A>G | ||
| ENST00000690824.1:c.3793-8A>G | ENSP00000510709.1:n.3793-8A>G | |
| ENST00000691661.1:c.3880-8A>G | ENSP00000510185.1:n.3880-8A>G | |
| ENST00000691862.1:c.3766-8A>G | ENSP00000509291.1:n.3766-8A>G | |
| ENST00000692813.1:c.3832-8A>G | ENSP00000509080.1:n.3832-8A>G | |
| ENST00000692972.1:c.3943-8A>G | ENSP00000510753.1:n.3943-8A>G | |
| ENST00000693602.1:n.6454-8A>G | ||
| ENST00000358951.7:c.3868-8A>G MANE Select | ENSP00000351832.2:n.3868-8A>G | |
| ENST00000358951.6:c.3868-8A>G | ENSP00000351832.2:n.3868-8A>G | |
| ENST00000474966.1:n.539-8A>G | ||
| ENST00000491005.5:n.316-8A>G | ||
| ENST00000491305.1:n.684-8A>G | ||
| NM_012414.3:c.3868-8A>G | NP_036546.2:n.3868-8A>G | |
| NM_012414.4:c.3868-8A>G MANE Select | NP_036546.2:n.3868-8A>G |