Linked Data
ClinVar Variation Id:
2952022
ClinVar RCV Id:
RCV003812709
MyVariant Identifiers:
chr7:g.103290782G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103650335G>A , CM000669.2:g.103650335G>A | GRCh38 |
| NC_000007.13:g.103290782G>A , CM000669.1:g.103290782G>A | GRCh37 |
| NC_000007.12:g.103078018G>A | NCBI36 |
| NG_011877.1:g.344182C>T | |
| NG_011877.2:g.344182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.1941C>T | ENSP00000388446.3:p.Asn647= | |
| ENST00000428762.6:c.1941C>T MANE Select | ENSP00000392423.1:p.Asn647= | |
| ENST00000473457.2:n.2205C>T | ||
| ENST00000679867.1:n.1825C>T | ||
| ENST00000680712.1:n.1658C>T | ||
| ENST00000681034.1:c.1941C>T | ENSP00000506075.1:p.Asn647= | |
| ENST00000681931.1:n.1825C>T | ||
| ENST00000343529.9:c.1941C>T | ENSP00000345694.5:p.Asn647= | |
| ENST00000424685.2:c.1941C>T | ENSP00000388446.2:p.Asn647= | |
| ENST00000428762.5:c.1941C>T | ENSP00000392423.1:p.Asn647= | |
| NM_005045.3:c.1941C>T | NP_005036.2:p.Asn647= | |
| NM_173054.2:c.1941C>T | NP_774959.1:p.Asn647= | |
| NM_005045.4:c.1941C>T MANE Select | NP_005036.2:p.Asn647= | |
| NM_173054.3:c.1941C>T | NP_774959.1:p.Asn647= |