Linked Data
dbSNP Id:
rs10901850
gnomAD v2:
10-126707881-C-T
gnomAD v3:
10-125019312-C-T
gnomAD v4:
10-125019312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125019312C>T , CM000672.2:g.125019312C>T | GRCh38 |
| NC_000010.10:g.126707881C>T , CM000672.1:g.126707881C>T | GRCh37 |
| NC_000010.9:g.126697871C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337195.10:c.59-15820G>A | ENSP00000338615.5:n.59-15820G>A | |
| ENST00000411419.7:c.59-15820G>A | ENSP00000410474.2:n.59-15820G>A | |
| ENST00000309035.11:c.1678+6770G>A | ENSP00000311825.6:n.1678+6770G>A | |
| ENST00000309035.10:c.1678+6770G>A | ENSP00000311825.6:n.1678+6770G>A | |
| ENST00000337195.9:c.59-15820G>A | ENSP00000338615.5:n.59-15820G>A | |
| ENST00000411419.6:c.59-15820G>A | ENSP00000410474.2:n.59-15820G>A | |
| ENST00000460976.5:n.449-15820G>A | ||
| ENST00000493552.1:n.71+8646G>A | ||
| ENST00000494626.6:c.59-15820G>A | ENSP00000436285.1:n.59-15820G>A | |
| ENST00000531469.5:c.59-15820G>A | ENSP00000434630.1:n.59-15820G>A | |
| NM_001083914.1:c.59-15820G>A | NP_001077383.1:n.59-15820G>A | |
| NM_001290214.1:c.59-15820G>A | NP_001277143.1:n.59-15820G>A | |
| NM_001290215.1:c.59-15820G>A | NP_001277144.1:n.59-15820G>A | |
| NM_001329.2:c.59-15820G>A | NP_001320.1:n.59-15820G>A | |
| NM_022802.2:c.1678+6770G>A | NP_073713.2:n.1678+6770G>A | |
| XM_005269561.2:c.59-15820G>A | XP_005269618.1:n.59-15820G>A | |
| XM_005269564.2:c.59-15820G>A | XP_005269621.1:n.59-15820G>A | |
| XM_005269565.2:c.59-15820G>A | XP_005269622.1:n.59-15820G>A | |
| XM_005269567.2:c.59-15820G>A | XP_005269624.1:n.59-15820G>A | |
| XM_005269568.3:c.59-15820G>A | XP_005269625.1:n.59-15820G>A | |
| XM_005269569.2:c.59-15820G>A | XP_005269626.1:n.59-15820G>A | |
| XM_005269570.2:c.59-15820G>A | XP_005269627.1:n.59-15820G>A | |
| XM_005269571.2:c.59-15820G>A | XP_005269628.1:n.59-15820G>A | |
| XM_005269572.3:c.59-15820G>A | XP_005269629.1:n.59-15820G>A | |
| XM_006717641.2:c.59-15820G>A | XP_006717704.1:n.59-15820G>A | |
| XM_006717642.2:c.59-15820G>A | XP_006717705.1:n.59-15820G>A | |
| XM_006717643.2:c.59-15820G>A | XP_006717706.1:n.59-15820G>A | |
| XM_011539350.1:c.59-15820G>A | XP_011537652.1:n.59-15820G>A | |
| XM_011539351.1:c.59-15820G>A | XP_011537653.1:n.59-15820G>A | |
| XM_011539352.1:c.59-15820G>A | XP_011537654.1:n.59-15820G>A | |
| XM_011539353.1:c.59-15820G>A | XP_011537655.1:n.59-15820G>A | |
| XM_011539354.1:c.59-15820G>A | XP_011537656.1:n.59-15820G>A | |
| XM_011539355.1:c.59-15820G>A | XP_011537657.1:n.59-15820G>A | |
| XM_011539356.1:c.59-15820G>A | XP_011537658.1:n.59-15820G>A | |
| XM_011539357.1:c.-17-15820G>A | XP_011537659.1:n.-17-15820G>A | |
| XM_011539358.1:c.-17-15820G>A | XP_011537660.1:n.-17-15820G>A | |
| XM_011539359.1:c.-264-15820G>A | XP_011537661.1:n.-264-15820G>A | |
| XM_011539360.1:c.-264-15820G>A | XP_011537662.1:n.-264-15820G>A | |
| XM_011539361.1:c.-264-15820G>A | XP_011537663.1:n.-264-15820G>A | |
| XM_011539362.1:c.-264-15820G>A | XP_011537664.1:n.-264-15820G>A | |
| XM_011539363.1:c.-264-15820G>A | XP_011537665.1:n.-264-15820G>A | |
| NM_001083914.2:c.59-15820G>A | NP_001077383.1:n.59-15820G>A | |
| NM_001290214.2:c.59-15820G>A | NP_001277143.1:n.59-15820G>A | |
| NM_001290215.2:c.59-15820G>A | NP_001277144.1:n.59-15820G>A | |
| NM_001321012.1:c.59-15820G>A | NP_001307941.1:n.59-15820G>A | |
| NM_001321013.1:c.59-15820G>A | NP_001307942.1:n.59-15820G>A | |
| NM_001321014.1:c.59-15820G>A | NP_001307943.1:n.59-15820G>A | |
| NM_001329.3:c.59-15820G>A | NP_001320.1:n.59-15820G>A | |
| XM_005269561.3:c.59-15820G>A | XP_005269618.1:n.59-15820G>A | |
| XM_005269564.3:c.59-15820G>A | XP_005269621.1:n.59-15820G>A | |
| XM_005269567.3:c.59-15820G>A | XP_005269624.1:n.59-15820G>A | |
| XM_005269568.5:c.59-15820G>A | XP_005269625.1:n.59-15820G>A | |
| XM_005269569.3:c.59-15820G>A | XP_005269626.1:n.59-15820G>A | |
| XM_005269571.3:c.59-15820G>A | XP_005269628.1:n.59-15820G>A | |
| XM_005269572.4:c.59-15820G>A | XP_005269629.1:n.59-15820G>A | |
| XM_006717642.3:c.59-15820G>A | XP_006717705.1:n.59-15820G>A | |
| XM_011539351.2:c.59-15820G>A | XP_011537653.1:n.59-15820G>A | |
| XM_011539353.2:c.59-15820G>A | XP_011537655.1:n.59-15820G>A | |
| XM_011539354.2:c.59-15820G>A | XP_011537656.1:n.59-15820G>A | |
| XM_011539355.2:c.59-15820G>A | XP_011537657.1:n.59-15820G>A | |
| XM_011539357.2:c.-17-15820G>A | XP_011537659.1:n.-17-15820G>A | |
| XM_011539358.2:c.-17-15820G>A | XP_011537660.1:n.-17-15820G>A | |
| XM_017015756.2:c.59-15820G>A | XP_016871245.1:n.59-15820G>A | |
| XM_017015757.2:c.59-15820G>A | XP_016871246.1:n.59-15820G>A | |
| XM_024447830.1:c.59-15820G>A | XP_024303598.1:n.59-15820G>A | |
| XM_024447831.1:c.-17-15820G>A | XP_024303599.1:n.-17-15820G>A | |
| NM_022802.3:c.1678+6770G>A | NP_073713.2:n.1678+6770G>A | |
| NM_001083914.3:c.59-15820G>A | NP_001077383.1:n.59-15820G>A | |
| NM_001290214.3:c.59-15820G>A | NP_001277143.1:n.59-15820G>A | |
| NM_001290215.3:c.59-15820G>A | NP_001277144.1:n.59-15820G>A | |
| NM_001321012.2:c.59-15820G>A | NP_001307941.1:n.59-15820G>A | |
| NM_001321013.2:c.59-15820G>A | NP_001307942.1:n.59-15820G>A | |
| NM_001321014.2:c.59-15820G>A | NP_001307943.1:n.59-15820G>A | |
| NM_001329.4:c.59-15820G>A MANE Select | NP_001320.1:n.59-15820G>A |