Linked Data
dbSNP Id:
rs2715554
gnomAD v2:
17-38489170-A-G
gnomAD v3:
17-40332918-A-G
gnomAD v4:
17-40332918-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40332918A>G , CM000679.2:g.40332918A>G | GRCh38 |
| NC_000017.10:g.38489170A>G , CM000679.1:g.38489170A>G | GRCh37 |
| NC_000017.9:g.35742696A>G | NCBI36 |
| NG_027701.1:g.28748A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254066.10:c.178+1522A>G MANE Select | ENSP00000254066.5:n.178+1522A>G | |
| ENST00000254066.9:c.178+1522A>G | ENSP00000254066.5:n.178+1522A>G | |
| ENST00000394089.6:c.178+1522A>G | ENSP00000377649.2:n.178+1522A>G | |
| ENST00000425707.7:c.178+1522A>G | ENSP00000389993.3:n.178+1522A>G | |
| ENST00000577646.5:c.178+1522A>G | ENSP00000464287.1:n.178+1522A>G | |
| NM_000964.3:c.178+1522A>G | NP_000955.1:n.178+1522A>G | |
| NM_001145301.2:c.178+1522A>G | NP_001138773.1:n.178+1522A>G | |
| NM_001145302.2:c.178+1522A>G | NP_001138774.1:n.178+1522A>G | |
| XM_005257553.1:c.178+1522A>G | XP_005257610.1:n.178+1522A>G | |
| XM_005257554.1:c.178+1522A>G | XP_005257611.1:n.178+1522A>G | |
| XM_011525095.1:c.178+1522A>G | XP_011523397.1:n.178+1522A>G | |
| NM_000964.4:c.178+1522A>G MANE Select | NP_000955.1:n.178+1522A>G | |
| NM_001145301.3:c.178+1522A>G | NP_001138773.1:n.178+1522A>G | |
| NM_001145302.3:c.178+1522A>G | NP_001138774.1:n.178+1522A>G |