Linked Data
ClinVar Variation Id:
30722
ClinVar RCV Id:
RCV000023700
RCV000505092
RCV000664608
RCV000787740
RCV000814767
RCV001003267
RCV001074209
RCV001376510
RCV004017262
RCV001824575
dbSNP Id:
rs786200928
gnomAD v2:
1-216064540-T-C
gnomAD v3:
1-215891198-T-C
gnomAD v4:
1-215891198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215891198T>C , CM000663.2:g.215891198T>C | GRCh38 |
| NC_000001.10:g.216064540T>C , CM000663.1:g.216064540T>C | GRCh37 |
| NC_000001.9:g.214131163T>C | NCBI36 |
| NG_009497.1:g.537199A>G | |
| NG_009497.2:g.537251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7595-2144A>G MANE Select | ENSP00000305941.3:n.7595-2144A>G | |
| ENST00000674083.1:c.7595-2144A>G | ENSP00000501296.1:n.7595-2144A>G | |
| ENST00000307340.7:c.7595-2144A>G | ENSP00000305941.3:n.7595-2144A>G | |
| NM_206933.2:c.7595-2144A>G | NP_996816.2:n.7595-2144A>G | |
| NM_206933.3:c.7595-2144A>G | NP_996816.2:n.7595-2144A>G | |
| NM_206933.4:c.7595-2144A>G MANE Select | NP_996816.3:n.7595-2144A>G |