Linked Data
dbSNP Id:
rs756849878
ExAC:
6:151160937 G / A
gnomAD v2:
6-151160937-G-A
gnomAD v3:
6-150839801-G-A
gnomAD v4:
6-150839801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150839801G>A , CM000668.2:g.150839801G>A | GRCh38 |
| NC_000006.11:g.151160937G>A , CM000668.1:g.151160937G>A | GRCh37 |
| NC_000006.10:g.151202630G>A | NCBI36 |
| NG_051299.1:g.244939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696526.1:c.3095-32G>A MANE Select | ENSP00000512689.1:n.3095-32G>A | |
| ENST00000644968.1:c.3095-32G>A | ENSP00000496254.1:n.3095-32G>A | |
| ENST00000358517.6:c.3095-32G>A | ENSP00000351318.2:n.3095-32G>A | |
| ENST00000367328.5:c.3095-32G>A | ENSP00000356297.1:n.3095-32G>A | |
| ENST00000475490.1:c.1158-1234G>A | ENSP00000433107.1:n.1158-1234G>A | |
| NM_001029884.1:c.3095-32G>A | NP_001025055.1:n.3095-32G>A | |
| XM_005267064.2:c.3272-32G>A | XP_005267121.1:n.3272-32G>A | |
| XM_005267065.2:c.3095-32G>A | XP_005267122.1:n.3095-32G>A | |
| XM_005267066.1:c.3095-32G>A | XP_005267123.1:n.3095-32G>A | |
| XM_006715521.1:c.3095-32G>A | XP_006715584.1:n.3095-32G>A | |
| XM_006715522.2:c.3095-32G>A | XP_006715585.1:n.3095-32G>A | |
| XM_011535981.1:c.3311-32G>A | XP_011534283.1:n.3311-32G>A | |
| XM_011535982.1:c.3272-32G>A | XP_011534284.1:n.3272-32G>A | |
| XM_011535983.1:c.3095-32G>A | XP_011534285.1:n.3095-32G>A | |
| NM_001029884.2:c.3095-32G>A | NP_001025055.1:n.3095-32G>A | |
| NM_001329798.1:c.3272-32G>A | NP_001316727.1:n.3272-32G>A | |
| NM_001329799.1:c.3215-32G>A | NP_001316728.1:n.3215-32G>A | |
| NM_001329800.1:c.3095-32G>A | NP_001316729.1:n.3095-32G>A | |
| NM_001329801.1:c.3095-32G>A | NP_001316730.1:n.3095-32G>A | |
| NM_001329802.1:c.3056-32G>A | NP_001316731.1:n.3056-32G>A | |
| NM_001329803.1:c.2978-32G>A | NP_001316732.1:n.2978-32G>A | |
| NM_001329804.1:c.1617-1234G>A | NP_001316733.1:n.1617-1234G>A | |
| NM_001329805.1:c.1617-1234G>A | NP_001316734.1:n.1617-1234G>A | |
| NM_001329806.1:c.1617-1234G>A | NP_001316735.1:n.1617-1234G>A | |
| NM_001029884.3:c.3095-32G>A MANE Select | NP_001025055.1:n.3095-32G>A | |
| NM_001329798.2:c.3272-32G>A | NP_001316727.1:n.3272-32G>A | |
| NM_001329799.2:c.3215-32G>A | NP_001316728.1:n.3215-32G>A | |
| NM_001329800.2:c.3095-32G>A | NP_001316729.1:n.3095-32G>A | |
| NM_001329801.2:c.3095-32G>A | NP_001316730.1:n.3095-32G>A | |
| NM_001329802.2:c.3056-32G>A | NP_001316731.1:n.3056-32G>A | |
| NM_001329803.2:c.2978-32G>A | NP_001316732.1:n.2978-32G>A | |
| NM_001329804.2:c.1617-1234G>A | NP_001316733.1:n.1617-1234G>A | |
| NM_001329805.2:c.1617-1234G>A | NP_001316734.1:n.1617-1234G>A | |
| NM_001329806.2:c.1617-1234G>A | NP_001316735.1:n.1617-1234G>A |