Linked Data
ClinVar Variation Id:
1612934
ClinVar RCV Id:
RCV002171013
dbSNP Id:
rs766389018
ExAC:
2:136564707 A / C
gnomAD v2:
2-136564707-A-C
gnomAD v3:
2-135807137-A-C
gnomAD v4:
2-135807137-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135807137A>C , CM000664.2:g.135807137A>C | GRCh38 |
| NC_000002.11:g.136564707A>C , CM000664.1:g.136564707A>C | GRCh37 |
| NC_000002.10:g.136281177A>C | NCBI36 |
| NG_008104.2:g.53033T>G , LRG_338:g.53033T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4164T>G MANE Select | ENSP00000264162.2:p.Ala1388= | |
| ENST00000264162.6:c.4164T>G | ENSP00000264162.2:p.Ala1388= | |
| ENST00000452974.1:c.2460T>G | ENSP00000391231.1:p.Ala820= | |
| NM_002299.2:c.4164T>G , LRG_338t1:c.4164T>G | NP_002290.2:p.Ala1388= | |
| NM_002299.3:c.4164T>G | NP_002290.2:p.Ala1388= | |
| XM_017004088.2:c.4164T>G | XP_016859577.1:p.Ala1388= | |
| NM_002299.4:c.4164T>G MANE Select | NP_002290.2:p.Ala1388= |