Linked Data
dbSNP Id:
rs4806846
gnomAD v2:
19-2410484-G-A
gnomAD v3:
19-2410486-G-A
gnomAD v4:
19-2410486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2410486G>A , CM000681.2:g.2410486G>A | GRCh38 |
| NC_000019.9:g.2410484G>A , CM000681.1:g.2410484G>A | GRCh37 |
| NC_000019.8:g.2361484G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696167.1:c.1254+92G>A MANE Select | ENSP00000512457.1:n.1254+92G>A | |
| ENST00000648592.1:c.1254+92G>A | ENSP00000498031.1:n.1254+92G>A | |
| ENST00000649857.1:c.1152+92G>A | ENSP00000497651.1:n.1152+92G>A | |
| ENST00000332578.7:c.1152+92G>A | ENSP00000330264.2:n.1152+92G>A | |
| ENST00000395264.3:n.1269+92G>A | ||
| ENST00000613480.1:c.1152+92G>A | ENSP00000482424.1:n.1152+92G>A | |
| NM_182973.1:c.1152+92G>A | NP_892018.1:n.1152+92G>A | |
| XM_011527978.1:c.1254+92G>A | XP_011526280.1:n.1254+92G>A | |
| XM_011527979.1:c.1155+92G>A | XP_011526281.1:n.1155+92G>A | |
| XM_011527980.1:c.45+92G>A | XP_011526282.1:n.45+92G>A | |
| XM_011527981.1:c.1254+92G>A | XP_011526283.1:n.1254+92G>A | |
| XM_011527983.1:c.1254+92G>A | XP_011526285.1:n.1254+92G>A | |
| NM_182973.2:c.1152+92G>A | NP_892018.1:n.1152+92G>A | |
| XM_011527978.2:c.1254+92G>A | XP_011526280.1:n.1254+92G>A | |
| NM_001385642.1:c.558+92G>A | NP_001372571.1:n.558+92G>A | |
| NM_182973.3:c.1152+92G>A | NP_892018.1:n.1152+92G>A | |
| NM_001395513.1:c.1254+92G>A MANE Select | NP_001382442.1:n.1254+92G>A |