Linked Data
dbSNP Id:
rs17103138
gnomAD v2:
10-123913330-T-C
gnomAD v3:
10-122153815-T-C
gnomAD v4:
10-122153815-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122153815T>C , CM000672.2:g.122153815T>C | GRCh38 |
| NC_000010.10:g.123913330T>C , CM000672.1:g.123913330T>C | GRCh37 |
| NC_000010.9:g.123903320T>C | NCBI36 |
| NG_029948.2:g.169642T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369005.6:c.5834+10109T>C MANE Select | ENSP00000358001.1:n.5834+10109T>C | |
| ENST00000334433.7:c.5834+10109T>C | ENSP00000334280.2:n.5834+10109T>C | |
| ENST00000358010.5:c.272+21081T>C | ENSP00000350701.1:n.272+21081T>C | |
| ENST00000369000.5:c.-1055+21081T>C | ENSP00000357996.1:n.-1055+21081T>C | |
| ENST00000369001.5:c.-1151+21081T>C | ENSP00000357997.1:n.-1151+21081T>C | |
| ENST00000369005.5:c.5834+10109T>C | ENSP00000358001.1:n.5834+10109T>C | |
| ENST00000453444.6:c.5846+21081T>C | ENSP00000395048.2:n.5846+21081T>C | |
| ENST00000492237.5:n.174+40586T>C | ||
| ENST00000493951.5:n.335+10109T>C | ||
| ENST00000513429.5:c.272+21081T>C | ENSP00000425062.1:n.272+21081T>C | |
| ENST00000515273.5:c.5846+21081T>C | ENSP00000424467.1:n.5846+21081T>C | |
| ENST00000515603.5:c.5699+21081T>C | ENSP00000427618.1:n.5699+21081T>C | |
| NM_001291876.1:c.5699+21081T>C | NP_001278805.1:n.5699+21081T>C | |
| NM_001291877.1:c.5846+21081T>C | NP_001278806.1:n.5846+21081T>C | |
| NM_001291879.1:c.-1151+21081T>C | NP_001278808.1:n.-1151+21081T>C | |
| NM_206861.2:c.272+21081T>C | NP_996743.1:n.272+21081T>C | |
| NM_206862.3:c.5834+10109T>C | NP_996744.3:n.5834+10109T>C | |
| XM_005269388.1:c.5894+10109T>C | XP_005269445.1:n.5894+10109T>C | |
| XM_005269389.3:c.5894+10109T>C | XP_005269446.1:n.5894+10109T>C | |
| XM_005269390.1:c.5894+10109T>C | XP_005269447.1:n.5894+10109T>C | |
| XM_005269391.1:c.5834+10109T>C | XP_005269448.1:n.5834+10109T>C | |
| XM_005269392.1:c.5894+10109T>C | XP_005269449.1:n.5894+10109T>C | |
| XM_005269393.1:c.5894+10109T>C | XP_005269450.1:n.5894+10109T>C | |
| XM_005269394.1:c.5768+10109T>C | XP_005269451.1:n.5768+10109T>C | |
| XM_005269395.1:c.5759+21081T>C | XP_005269452.1:n.5759+21081T>C | |
| XM_005269396.1:c.5894+10109T>C | XP_005269453.1:n.5894+10109T>C | |
| XM_005269397.1:c.5634-41225T>C | XP_005269454.1:n.5634-41225T>C | |
| XM_005269399.1:c.5759+21081T>C | XP_005269456.1:n.5759+21081T>C | |
| XM_006717548.1:c.5894+10109T>C | XP_006717611.1:n.5894+10109T>C | |
| XM_006717552.1:c.5894+10109T>C | XP_006717615.1:n.5894+10109T>C | |
| XM_006717553.1:c.5894+10109T>C | XP_006717616.1:n.5894+10109T>C | |
| XM_006717554.1:c.5894+10109T>C | XP_006717617.1:n.5894+10109T>C | |
| XM_011539126.1:c.5891+10109T>C | XP_011537428.1:n.5891+10109T>C | |
| XM_011539127.1:c.5894+10109T>C | XP_011537429.1:n.5894+10109T>C | |
| XM_011539128.1:c.467+10109T>C | XP_011537430.1:n.467+10109T>C | |
| XM_011539129.1:c.332+21081T>C | XP_011537431.1:n.332+21081T>C | |
| XM_011539130.1:c.332+21081T>C | XP_011537432.1:n.332+21081T>C | |
| XM_011539133.1:c.-1055+21081T>C | XP_011537435.1:n.-1055+21081T>C | |
| XM_011539134.1:c.-1055+10109T>C | XP_011537436.1:n.-1055+10109T>C | |
| XM_011539135.1:c.-1055+40582T>C | XP_011537437.1:n.-1055+40582T>C | |
| XM_011539134.2:c.-1055+10109T>C | XP_011537436.1:n.-1055+10109T>C | |
| XM_017015484.1:c.5894+10109T>C | XP_016870973.1:n.5894+10109T>C | |
| XM_017015485.1:c.5894+10109T>C | XP_016870974.1:n.5894+10109T>C | |
| XM_017015486.1:c.5894+10109T>C | XP_016870975.1:n.5894+10109T>C | |
| XM_017015487.1:c.5894+10109T>C | XP_016870976.1:n.5894+10109T>C | |
| XM_017015488.1:c.5634-41225T>C | XP_016870977.1:n.5634-41225T>C | |
| XM_017015489.1:c.5634-41225T>C | XP_016870978.1:n.5634-41225T>C | |
| XM_017015499.1:c.-1055+10109T>C | XP_016870988.1:n.-1055+10109T>C | |
| XM_024447756.1:c.5894+10109T>C | XP_024303524.1:n.5894+10109T>C | |
| XM_024447757.1:c.5894+10109T>C | XP_024303525.1:n.5894+10109T>C | |
| XM_024447758.1:c.5891+10109T>C | XP_024303526.1:n.5891+10109T>C | |
| XM_024447759.1:c.5834+10109T>C | XP_024303527.1:n.5834+10109T>C | |
| XM_024447760.1:c.5768+10109T>C | XP_024303528.1:n.5768+10109T>C | |
| XM_024447761.1:c.5759+21081T>C | XP_024303529.1:n.5759+21081T>C | |
| XM_024447762.1:c.5634-41225T>C | XP_024303530.1:n.5634-41225T>C | |
| XM_024447763.1:c.467+10109T>C | XP_024303531.1:n.467+10109T>C | |
| XM_024447764.1:c.332+21081T>C | XP_024303532.1:n.332+21081T>C | |
| XM_024447766.1:c.-1055+21081T>C | XP_024303534.1:n.-1055+21081T>C | |
| XM_024447767.1:c.-1055+10109T>C | XP_024303535.1:n.-1055+10109T>C | |
| XM_024447768.1:c.-1055+40582T>C | XP_024303536.1:n.-1055+40582T>C | |
| NM_206862.4:c.5834+10109T>C MANE Select | NP_996744.4:n.5834+10109T>C | |
| NM_001291876.2:c.5699+21081T>C | NP_001278805.2:n.5699+21081T>C | |
| NM_001291877.2:c.5846+21081T>C | NP_001278806.2:n.5846+21081T>C | |
| NM_001291879.2:c.-1151+21081T>C | NP_001278808.1:n.-1151+21081T>C | |
| NM_206861.3:c.272+21081T>C | NP_996743.1:n.272+21081T>C |