Linked Data
ClinVar Variation Id:
3221938
ClinVar RCV Id:
RCV004511261
dbSNP Id:
rs778751829
ExAC:
18:29121250 T / C
gnomAD v2:
18-29121250-T-C
gnomAD v4:
18-31541287-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541287T>C , CM000680.2:g.31541287T>C | GRCh38 |
| NC_000018.9:g.29121250T>C , CM000680.1:g.29121250T>C | GRCh37 |
| NC_000018.8:g.27375248T>C | NCBI36 |
| NG_007072.3:g.48046T>C , LRG_397:g.48046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1974T>C MANE Select | ENSP00000261590.8:p.Asn658= | |
| ENST00000261590.12:c.1974T>C | ENSP00000261590.8:p.Asn658= | |
| NM_001943.3:c.1974T>C , LRG_397t1:c.1974T>C | NP_001934.2:p.Asn658= | |
| NM_001943.4:c.1974T>C | NP_001934.2:p.Asn658= | |
| XM_024451095.1:c.1440T>C | XP_024306863.1:p.Asn480= | |
| NM_001943.5:c.1974T>C MANE Select | NP_001934.2:p.Asn658= |