Linked Data
ClinVar Variation Id:
204325
ClinVar RCV Id:
RCV000186516
dbSNP Id:
rs778886056
ExAC:
4:55962532 G / A
gnomAD v2:
4-55962532-G-A
gnomAD v4:
4-55096365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55096365G>A , CM000666.2:g.55096365G>A | GRCh38 |
| NC_000004.11:g.55962532G>A , CM000666.1:g.55962532G>A | GRCh37 |
| NC_000004.10:g.55657289G>A | NCBI36 |
| NG_012004.1:g.34231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.2615-23C>T MANE Select | ENSP00000263923.4:n.2615-23C>T | |
| ENST00000647068.1:n.2628-23C>T | ||
| ENST00000263923.4:c.2615-23C>T | ENSP00000263923.4:n.2615-23C>T | |
| ENST00000509309.1:n.356C>T | ||
| NM_002253.2:c.2615-23C>T | NP_002244.1:n.2615-23C>T | |
| NM_002253.3:c.2615-23C>T | NP_002244.1:n.2615-23C>T | |
| NM_002253.4:c.2615-23C>T MANE Select | NP_002244.1:n.2615-23C>T |