Linked Data
ClinVar Variation Id:
2988898
ClinVar RCV Id:
RCV003847065
dbSNP Id:
rs373114186
ExAC:
4:74275220 A / G
gnomAD v2:
4-74275220-A-G
gnomAD v3:
4-73409503-A-G
gnomAD v4:
4-73409503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73409503A>G , CM000666.2:g.73409503A>G | GRCh38 |
| NC_000004.11:g.74275220A>G , CM000666.1:g.74275220A>G | GRCh37 |
| NC_000004.10:g.74494084A>G | NCBI36 |
| NG_009291.1:g.10249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.615+16A>G MANE Select | ENSP00000295897.4:n.615+16A>G | |
| ENST00000295897.8:c.615+16A>G | ENSP00000295897.4:n.615+16A>G | |
| ENST00000401494.7:c.270+16A>G | ENSP00000384695.3:n.270+16A>G | |
| ENST00000415165.6:c.138-2493A>G | ENSP00000401820.2:n.138-2493A>G | |
| ENST00000476441.6:c.212+16A>G | ENSP00000423727.1:n.212+16A>G | |
| ENST00000503124.5:c.165+16A>G | ENSP00000421027.1:n.165+16A>G | |
| ENST00000505649.5:n.301+16A>G | ||
| ENST00000509063.5:c.615+16A>G | ENSP00000422784.1:n.615+16A>G | |
| ENST00000511370.1:c.148+16A>G | ||
| ENST00000621085.4:c.490+141A>G | ENSP00000483421.1:n.490+141A>G | |
| ENST00000621628.4:c.486+427A>G | ENSP00000480485.1:n.486+427A>G | |
| NM_000477.5:c.615+16A>G | NP_000468.1:n.615+16A>G | |
| NM_000477.6:c.615+16A>G | NP_000468.1:n.615+16A>G | |
| NM_000477.7:c.615+16A>G MANE Select | NP_000468.1:n.615+16A>G |