Linked Data
ClinVar Variation Id:
225938
ClinVar RCV Id:
RCV001251438
dbSNP Id:
rs10455872
gnomAD v2:
6-161010118-A-G
gnomAD v3:
6-160589086-A-G
gnomAD v4:
6-160589086-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160589086A>G , CM000668.2:g.160589086A>G | GRCh38 |
| NC_000006.11:g.161010118A>G , CM000668.1:g.161010118A>G | GRCh37 |
| NC_000006.10:g.160930108A>G | NCBI36 |
| NG_016147.1:g.82290T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316300.10:c.3947+467T>C MANE Select | ENSP00000321334.6:n.3947+467T>C | |
| ENST00000316300.9:c.3947+467T>C | ENSP00000321334.5:n.3947+467T>C | |
| ENST00000447678.2:c.1688+467T>C | ENSP00000395608.2:n.1688+467T>C | |
| NM_005577.2:c.3947+467T>C | NP_005568.2:n.3947+467T>C | |
| NM_005577.3:c.3947+467T>C | NP_005568.2:n.3947+467T>C | |
| NM_005577.4:c.3947+467T>C MANE Select | NP_005568.2:n.3947+467T>C |