Linked Data
ClinVar Variation Id:
512873
ClinVar RCV Id:
RCV001712658
dbSNP Id:
rs776406996
ExAC:
7:103212712 G / A
gnomAD v2:
7-103212712-G-A
gnomAD v3:
7-103572265-G-A
gnomAD v4:
7-103572265-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103572265G>A , CM000669.2:g.103572265G>A | GRCh38 |
| NC_000007.13:g.103212712G>A , CM000669.1:g.103212712G>A | GRCh37 |
| NC_000007.12:g.102999948G>A | NCBI36 |
| NG_011877.1:g.422252C>T | |
| NG_011877.2:g.422252C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.4512-5C>T | ENSP00000388446.3:n.4512-5C>T | |
| ENST00000428762.6:c.4512-5C>T MANE Select | ENSP00000392423.1:n.4512-5C>T | |
| ENST00000679867.1:n.4396-5C>T | ||
| ENST00000680706.1:n.2215-5C>T | ||
| ENST00000681034.1:c.4512-5C>T | ENSP00000506075.1:n.4512-5C>T | |
| ENST00000343529.9:c.4512-5C>T | ENSP00000345694.5:n.4512-5C>T | |
| ENST00000424685.2:c.4512-5C>T | ENSP00000388446.2:n.4512-5C>T | |
| ENST00000428762.5:c.4512-5C>T | ENSP00000392423.1:n.4512-5C>T | |
| NM_005045.3:c.4512-5C>T | NP_005036.2:n.4512-5C>T | |
| NM_173054.2:c.4512-5C>T | NP_774959.1:n.4512-5C>T | |
| NM_005045.4:c.4512-5C>T MANE Select | NP_005036.2:n.4512-5C>T | |
| NM_173054.3:c.4512-5C>T | NP_774959.1:n.4512-5C>T |