Linked Data
dbSNP Id:
rs2070593
gnomAD v2:
5-150407940-G-A
gnomAD v3:
5-151028379-G-A
gnomAD v4:
5-151028379-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151028379G>A , CM000667.2:g.151028379G>A | GRCh38 |
| NC_000005.9:g.150407940G>A , CM000667.1:g.150407940G>A | GRCh37 |
| NC_000005.8:g.150388133G>A | NCBI36 |
| NG_030590.1:g.64282C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388825.9:c.*249G>A MANE Select | ENSP00000373477.4:n.*249G>A | |
| ENST00000388825.8:c.*249G>A | ENSP00000373477.4:n.*249G>A | |
| ENST00000521632.1:c.739G>A | ||
| ENST00000614343.4:c.*711G>A | ENSP00000483660.1:n.*711G>A | |
| ENST00000622181.4:c.*249G>A | ENSP00000484258.1:n.*249G>A | |
| NM_002084.3:c.*249G>A | NP_002075.2:n.*249G>A | |
| NM_001329790.1:c.*249G>A | NP_001316719.1:n.*249G>A | |
| NM_002084.4:c.*249G>A | NP_002075.2:n.*249G>A | |
| NM_002084.5:c.*249G>A MANE Select | NP_002075.2:n.*249G>A | |
| NM_001329790.2:c.*249G>A | NP_001316719.1:n.*249G>A |