Linked Data
dbSNP Id:
rs1308893325
gnomAD v2:
6-161162296-G-A
gnomAD v3:
6-160741264-G-A
gnomAD v4:
6-160741264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160741264G>A , CM000668.2:g.160741264G>A | GRCh38 |
| NC_000006.11:g.161162296G>A , CM000668.1:g.161162296G>A | GRCh37 |
| NC_000006.10:g.161082286G>A | NCBI36 |
| NG_016200.1:g.44072G>A , LRG_571:g.44072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.972-47G>A | ENSP00000516619.1:n.972-47G>A | |
| ENST00000418964.2:c.2070-47G>A | ENSP00000389424.2:n.2070-47G>A | |
| ENST00000706906.1:c.*2039-47G>A | ENSP00000516618.1:n.*2039-47G>A | |
| ENST00000308192.14:c.2019-47G>A MANE Select | ENSP00000308938.9:n.2019-47G>A | |
| ENST00000308192.13:c.2019-47G>A | ENSP00000308938.9:n.2019-47G>A | |
| ENST00000461414.2:n.42-47G>A | ||
| ENST00000467466.1:n.320-47G>A | ||
| NM_000301.3:c.2019-47G>A , LRG_571t1:c.2019-47G>A | NP_000292.1:n.2019-47G>A | |
| NM_000301.4:c.2019-47G>A | NP_000292.1:n.2019-47G>A | |
| NM_000301.5:c.2019-47G>A MANE Select | NP_000292.1:n.2019-47G>A |