Linked Data
ClinVar Variation Id:
331194
dbSNP Id:
rs200579267
ExAC:
2:136567157 G / A
gnomAD v2:
2-136567157-G-A
gnomAD v3:
2-135809587-G-A
gnomAD v4:
2-135809587-G-A
COSMIC:
COSM4085033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135809587G>A , CM000664.2:g.135809587G>A | GRCh38 |
| NC_000002.11:g.136567157G>A , CM000664.1:g.136567157G>A | GRCh37 |
| NC_000002.10:g.136283627G>A | NCBI36 |
| NG_008104.2:g.50583C>T , LRG_338:g.50583C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.2760C>T MANE Select | ENSP00000264162.2:p.Gly920= | |
| ENST00000264162.6:c.2760C>T | ENSP00000264162.2:p.Gly920= | |
| ENST00000452974.1:c.1056C>T | ENSP00000391231.1:p.Gly352= | |
| NM_002299.2:c.2760C>T , LRG_338t1:c.2760C>T | NP_002290.2:p.Gly920= | |
| NM_002299.3:c.2760C>T | NP_002290.2:p.Gly920= | |
| XM_017004088.2:c.2760C>T | XP_016859577.1:p.Gly920= | |
| NM_002299.4:c.2760C>T MANE Select | NP_002290.2:p.Gly920= |