Linked Data
dbSNP Id:
rs780599594
gnomAD v2:
1-103444041-C-T
gnomAD v3:
1-102978485-C-T
gnomAD v4:
1-102978485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102978485C>T , CM000663.2:g.102978485C>T | GRCh38 |
| NC_000001.10:g.103444041C>T , CM000663.1:g.103444041C>T | GRCh37 |
| NC_000001.9:g.103216629C>T | NCBI36 |
| NG_008033.1:g.135012G>A | |
| NG_008033.2:g.135012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2754+223G>A MANE Select | ENSP00000359114.3:n.2754+223G>A | |
| ENST00000353414.8:c.2637+223G>A | ENSP00000302551.6:n.2637+223G>A | |
| ENST00000358392.6:c.2790+223G>A | ENSP00000351163.2:n.2790+223G>A | |
| ENST00000370096.7:c.2754+223G>A | ENSP00000359114.3:n.2754+223G>A | |
| ENST00000512756.5:c.2406+223G>A | ENSP00000426533.1:n.2406+223G>A | |
| ENST00000635193.1:c.2088+223G>A | ||
| NM_001190709.1:c.2637+223G>A | NP_001177638.1:n.2637+223G>A | |
| NM_001854.3:c.2754+223G>A | NP_001845.3:n.2754+223G>A | |
| NM_080629.2:c.2790+223G>A | NP_542196.2:n.2790+223G>A | |
| NM_080630.3:c.2406+223G>A | NP_542197.3:n.2406+223G>A | |
| XM_011540719.1:c.2754+223G>A | XP_011539021.1:n.2754+223G>A | |
| XM_011540720.1:c.987+223G>A | XP_011539022.1:n.987+223G>A | |
| XM_011540721.1:c.342+223G>A | XP_011539023.1:n.342+223G>A | |
| XR_946545.1:n.3168+223G>A | ||
| NR_134980.1:n.3088+223G>A | ||
| XM_017000334.1:c.2907+223G>A | XP_016855823.1:n.2907+223G>A | |
| XM_017000335.1:c.2901+223G>A | XP_016855824.1:n.2901+223G>A | |
| XM_017000336.1:c.2907+223G>A | XP_016855825.1:n.2907+223G>A | |
| XM_017000337.1:c.1305+223G>A | XP_016855826.1:n.1305+223G>A | |
| NM_001854.4:c.2754+223G>A MANE Select | NP_001845.3:n.2754+223G>A | |
| NM_080630.4:c.2406+223G>A | NP_542197.3:n.2406+223G>A | |
| NR_134980.2:n.3114+223G>A | ||
| NM_001190709.2:c.2637+223G>A | NP_001177638.1:n.2637+223G>A | |
| NM_080629.3:c.2790+223G>A | NP_542196.2:n.2790+223G>A |