Linked Data
dbSNP Id:
rs17443013
gnomAD v2:
4-41135544-T-C
gnomAD v3:
4-41133527-T-C
gnomAD v4:
4-41133527-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41133527T>C , CM000666.2:g.41133527T>C | GRCh38 |
| NC_000004.11:g.41135544T>C , CM000666.1:g.41135544T>C | GRCh37 |
| NC_000004.10:g.40830301T>C | NCBI36 |
| NG_013337.1:g.86092A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508593.6:c.-261+9460A>G MANE Select | ENSP00000427211.1:n.-261+9460A>G | |
| ENST00000295974.12:c.-261+9460A>G | ENSP00000295974.8:n.-261+9460A>G | |
| ENST00000502682.1:n.365+9460A>G | ||
| ENST00000503264.5:c.-145+9460A>G | ENSP00000425202.1:n.-145+9460A>G | |
| ENST00000503503.5:c.-163+4515A>G | ENSP00000421205.1:n.-163+4515A>G | |
| ENST00000503555.5:n.360+9460A>G | ||
| ENST00000506352.5:c.-261+9460A>G | ENSP00000421539.1:n.-261+9460A>G | |
| ENST00000506999.5:n.321+9460A>G | ||
| ENST00000508593.5:c.-261+9460A>G | ENSP00000427211.1:n.-261+9460A>G | |
| ENST00000508676.5:c.-163+9460A>G | ENSP00000422723.1:n.-163+9460A>G | |
| ENST00000508707.5:c.-163+9460A>G | ENSP00000424579.1:n.-163+9460A>G | |
| ENST00000509446.5:c.-243+9460A>G | ENSP00000424414.1:n.-243+9460A>G | |
| ENST00000511572.5:n.321+9460A>G | ||
| ENST00000513140.5:c.-261+9460A>G | ENSP00000426018.1:n.-261+9460A>G | |
| NM_001166050.1:c.-261+9460A>G | NP_001159522.1:n.-261+9460A>G | |
| NM_004307.1:c.-261+9460A>G | NP_004298.1:n.-261+9460A>G | |
| NM_173075.4:c.-261+9460A>G | NP_775098.2:n.-261+9460A>G | |
| XM_005248101.2:c.-261+9460A>G | XP_005248158.1:n.-261+9460A>G | |
| XM_006714005.2:c.-261+9460A>G | XP_006714068.1:n.-261+9460A>G | |
| XM_006714006.2:c.-261+9460A>G | XP_006714069.1:n.-261+9460A>G | |
| XM_006714007.2:c.-261+9460A>G | XP_006714070.1:n.-261+9460A>G | |
| XM_006714008.2:c.-163+9460A>G | XP_006714071.1:n.-163+9460A>G | |
| XM_006714009.2:c.-163+9460A>G | XP_006714072.1:n.-163+9460A>G | |
| XM_006714010.2:c.-261+9460A>G | XP_006714073.1:n.-261+9460A>G | |
| XM_006714011.2:c.-261+9460A>G | XP_006714074.1:n.-261+9460A>G | |
| XM_006714012.2:c.-261+9460A>G | XP_006714075.1:n.-261+9460A>G | |
| XM_011513686.1:c.-378+9460A>G | XP_011511988.1:n.-378+9460A>G | |
| XM_011513687.1:c.-261+9460A>G | XP_011511989.1:n.-261+9460A>G | |
| XM_011513688.1:c.-261+9460A>G | XP_011511990.1:n.-261+9460A>G | |
| NM_001330656.1:c.-261+9460A>G | NP_001317585.1:n.-261+9460A>G | |
| NM_001330658.1:c.-163+9460A>G | NP_001317587.1:n.-163+9460A>G | |
| XM_006714005.4:c.-261+9460A>G | XP_006714068.1:n.-261+9460A>G | |
| XM_006714007.4:c.-261+9460A>G | XP_006714070.1:n.-261+9460A>G | |
| XM_006714008.4:c.-163+9460A>G | XP_006714071.1:n.-163+9460A>G | |
| XM_006714009.4:c.-163+9460A>G | XP_006714072.1:n.-163+9460A>G | |
| XM_006714010.4:c.-261+9460A>G | XP_006714073.1:n.-261+9460A>G | |
| XM_006714011.4:c.-261+9460A>G | XP_006714074.1:n.-261+9460A>G | |
| XM_006714012.4:c.-261+9460A>G | XP_006714075.1:n.-261+9460A>G | |
| XM_011513686.3:c.-378+9460A>G | XP_011511988.1:n.-378+9460A>G | |
| XM_011513687.3:c.-261+9460A>G | XP_011511989.1:n.-261+9460A>G | |
| XM_011513688.3:c.-261+9460A>G | XP_011511990.1:n.-261+9460A>G | |
| XM_017008143.2:c.-378+9460A>G | XP_016863632.1:n.-378+9460A>G | |
| XM_017008144.2:c.-163+9460A>G | XP_016863633.1:n.-163+9460A>G | |
| XM_017008145.2:c.-163+9460A>G | XP_016863634.1:n.-163+9460A>G | |
| XM_017008146.2:c.-243+9460A>G | XP_016863635.1:n.-243+9460A>G | |
| XM_017008147.2:c.-243+9460A>G | XP_016863636.1:n.-243+9460A>G | |
| XM_017008148.2:c.-145+9460A>G | XP_016863637.1:n.-145+9460A>G | |
| XM_017008149.2:c.-243+9460A>G | XP_016863638.1:n.-243+9460A>G | |
| XM_017008151.2:c.-163+9460A>G | XP_016863640.1:n.-163+9460A>G | |
| XM_017008152.2:c.-163+9460A>G | XP_016863641.1:n.-163+9460A>G | |
| XM_017008154.2:c.-163+9460A>G | XP_016863643.1:n.-163+9460A>G | |
| XM_017008156.2:c.-243+9460A>G | XP_016863645.1:n.-243+9460A>G | |
| XM_017008157.2:c.-145+9460A>G | XP_016863646.1:n.-145+9460A>G | |
| XM_017008158.2:c.-243+9460A>G | XP_016863647.1:n.-243+9460A>G | |
| NM_004307.2:c.-261+9460A>G MANE Select | NP_004298.1:n.-261+9460A>G | |
| NM_001166050.2:c.-261+9460A>G | NP_001159522.1:n.-261+9460A>G | |
| NM_001330656.2:c.-261+9460A>G | NP_001317585.1:n.-261+9460A>G | |
| NM_001330658.2:c.-163+9460A>G | NP_001317587.1:n.-163+9460A>G | |
| NM_173075.5:c.-261+9460A>G | NP_775098.2:n.-261+9460A>G |