Linked Data
ClinVar Variation Id:
1664075
ClinVar RCV Id:
RCV002190946
dbSNP Id:
rs369435798
ExAC:
2:136555581 C / A
gnomAD v2:
2-136555581-C-A
gnomAD v3:
2-135798011-C-A
gnomAD v4:
2-135798011-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135798011C>A , CM000664.2:g.135798011C>A | GRCh38 |
| NC_000002.11:g.136555581C>A , CM000664.1:g.136555581C>A | GRCh37 |
| NC_000002.10:g.136272051C>A | NCBI36 |
| NG_008104.2:g.62159G>T , LRG_338:g.62159G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4976+18G>T MANE Select | ENSP00000264162.2:n.4976+18G>T | |
| ENST00000264162.6:c.4976+18G>T | ENSP00000264162.2:n.4976+18G>T | |
| ENST00000452974.1:c.3069+18G>T | ENSP00000391231.1:n.3069+18G>T | |
| NM_002299.2:c.4976+18G>T , LRG_338t1:c.4976+18G>T | NP_002290.2:n.4976+18G>T | |
| NM_002299.3:c.4976+18G>T | NP_002290.2:n.4976+18G>T | |
| XM_017004088.2:c.4976+18G>T | XP_016859577.1:n.4976+18G>T | |
| NM_002299.4:c.4976+18G>T MANE Select | NP_002290.2:n.4976+18G>T |