Linked Data
ClinVar Variation Id:
295633
dbSNP Id:
rs188031183
gnomAD v2:
1-220323948-G-A
gnomAD v3:
1-220150606-G-A
gnomAD v4:
1-220150606-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220150606G>A , CM000663.2:g.220150606G>A | GRCh38 |
| NC_000001.10:g.220323948G>A , CM000663.1:g.220323948G>A | GRCh37 |
| NC_000001.9:g.218390571G>A | NCBI36 |
| NG_015837.1:g.126896C>T | |
| NG_015837.2:g.126896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.2819C>T | ||
| ENST00000491005.6:n.5853C>T | ||
| ENST00000491305.2:n.5322C>T | ||
| ENST00000685286.1:c.*2152C>T | ENSP00000509457.1:n.*2152C>T | |
| ENST00000685664.1:c.*949C>T | ENSP00000509121.1:n.*949C>T | |
| ENST00000686381.1:c.*645C>T | ENSP00000509555.1:n.*645C>T | |
| ENST00000687065.1:c.*645C>T | ENSP00000510408.1:n.*645C>T | |
| ENST00000687647.1:c.*645C>T | ENSP00000509205.1:n.*645C>T | |
| ENST00000688035.1:n.7837C>T | ||
| ENST00000690315.1:c.*645C>T | ENSP00000509834.1:n.*645C>T | |
| ENST00000690373.1:n.5166C>T | ||
| ENST00000690824.1:c.*645C>T | ENSP00000510709.1:n.*645C>T | |
| ENST00000691661.1:c.*645C>T | ENSP00000510185.1:n.*645C>T | |
| ENST00000691862.1:c.*645C>T | ENSP00000509291.1:n.*645C>T | |
| ENST00000692813.1:c.*645C>T | ENSP00000509080.1:n.*645C>T | |
| ENST00000692972.1:c.*645C>T | ENSP00000510753.1:n.*645C>T | |
| ENST00000693602.1:n.7413C>T | ||
| ENST00000358951.7:c.*645C>T MANE Select | ENSP00000351832.2:n.*645C>T | |
| ENST00000358951.6:c.*645C>T | ENSP00000351832.2:n.*645C>T | |
| NM_012414.3:c.*645C>T | NP_036546.2:n.*645C>T | |
| NM_012414.4:c.*645C>T MANE Select | NP_036546.2:n.*645C>T |