Linked Data
dbSNP Id:
rs1937970
gnomAD v2:
10-84223466-A-G
gnomAD v3:
10-82463710-A-G
gnomAD v4:
10-82463710-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.82463710A>G , CM000672.2:g.82463710A>G | GRCh38 |
| NC_000010.10:g.84223466A>G , CM000672.1:g.84223466A>G | GRCh37 |
| NC_000010.9:g.84213446A>G | NCBI36 |
| NG_013373.1:g.593397A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372141.7:c.953+104842A>G MANE Select | ENSP00000361214.2:n.953+104842A>G | |
| ENST00000372141.6:c.953+104842A>G | ENSP00000361214.2:n.953+104842A>G | |
| ENST00000372142.6:c.290+104842A>G | ENSP00000361215.2:n.290+104842A>G | |
| ENST00000404547.5:c.953+104842A>G | ENSP00000384796.1:n.953+104842A>G | |
| ENST00000404576.6:c.365+104842A>G | ENSP00000385804.2:n.365+104842A>G | |
| ENST00000555784.5:c.265+104842A>G | ENSP00000451858.1:n.265+104842A>G | |
| ENST00000556918.5:c.443+104842A>G | ENSP00000451376.1:n.443+104842A>G | |
| ENST00000602794.5:c.*501+104842A>G | ENSP00000473669.1:n.*501+104842A>G | |
| NM_001010848.3:c.953+104842A>G | NP_001010848.2:n.953+104842A>G | |
| NM_001165972.1:c.953+104842A>G | NP_001159444.1:n.953+104842A>G | |
| NM_001165973.1:c.290+104842A>G | NP_001159445.1:n.290+104842A>G | |
| XM_005269444.3:c.953+104842A>G | XP_005269501.1:n.953+104842A>G | |
| XM_011539172.1:c.953+104842A>G | XP_011537474.1:n.953+104842A>G | |
| XM_011539173.1:c.953+104842A>G | XP_011537475.1:n.953+104842A>G | |
| XM_011539174.1:c.953+104842A>G | XP_011537476.1:n.953+104842A>G | |
| XM_011539175.1:c.953+104842A>G | XP_011537477.1:n.953+104842A>G | |
| XM_011539176.1:c.173+104842A>G | XP_011537478.1:n.173+104842A>G | |
| XM_011539177.1:c.173+104842A>G | XP_011537479.1:n.173+104842A>G | |
| XM_005269444.5:c.953+104842A>G | XP_005269501.1:n.953+104842A>G | |
| XM_011539172.3:c.953+104842A>G | XP_011537474.1:n.953+104842A>G | |
| XM_011539173.3:c.953+104842A>G | XP_011537475.1:n.953+104842A>G | |
| XM_011539175.3:c.953+104842A>G | XP_011537477.1:n.953+104842A>G | |
| XM_017015573.2:c.1031+104842A>G | XP_016871062.1:n.1031+104842A>G | |
| XM_017015574.2:c.1031+104842A>G | XP_016871063.1:n.1031+104842A>G | |
| XM_017015575.2:c.1031+104842A>G | XP_016871064.1:n.1031+104842A>G | |
| XM_017015576.2:c.1031+104842A>G | XP_016871065.1:n.1031+104842A>G | |
| XM_017015577.2:c.1031+104842A>G | XP_016871066.1:n.1031+104842A>G | |
| XM_017015578.2:c.1031+104842A>G | XP_016871067.1:n.1031+104842A>G | |
| XM_017015579.2:c.1031+104842A>G | XP_016871068.1:n.1031+104842A>G | |
| XM_017015580.2:c.1031+104842A>G | XP_016871069.1:n.1031+104842A>G | |
| XM_017015581.2:c.953+104842A>G | XP_016871070.1:n.953+104842A>G | |
| XM_017015582.1:c.173+104842A>G | XP_016871071.1:n.173+104842A>G | |
| XM_017015583.1:c.173+104842A>G | XP_016871072.1:n.173+104842A>G | |
| XM_017015584.2:c.1031+104842A>G | XP_016871073.1:n.1031+104842A>G | |
| XR_001747009.2:n.1182+104842A>G | ||
| NM_001010848.4:c.953+104842A>G MANE Select | NP_001010848.2:n.953+104842A>G | |
| NM_001370081.1:c.953+104842A>G | NP_001357010.1:n.953+104842A>G | |
| NM_001370082.1:c.386+104842A>G | NP_001357011.1:n.386+104842A>G | |
| NM_001370084.1:c.953+104842A>G | NP_001357013.1:n.953+104842A>G | |
| NR_163251.1:n.1304+104842A>G | ||
| NR_163252.1:n.539+104842A>G | ||
| NR_163253.1:n.940+104842A>G | ||
| NM_001165973.2:c.290+104842A>G | NP_001159445.1:n.290+104842A>G |