Linked Data
dbSNP Id:
rs13131226
gnomAD v2:
4-23874981-C-T
gnomAD v3:
4-23873358-C-T
gnomAD v4:
4-23873358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23873358C>T , CM000666.2:g.23873358C>T | GRCh38 |
| NC_000004.11:g.23874981C>T , CM000666.1:g.23874981C>T | GRCh37 |
| NC_000004.10:g.23484079C>T | NCBI36 |
| NG_028250.1:g.21720G>A | |
| NG_028250.2:g.604618G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264867.7:c.234+11394G>A MANE Select | ENSP00000264867.2:n.234+11394G>A | |
| ENST00000264867.6:c.234+11394G>A | ENSP00000264867.2:n.234+11394G>A | |
| ENST00000506055.5:c.234+11394G>A | ENSP00000423075.1:n.234+11394G>A | |
| ENST00000507342.5:n.314+11394G>A | ||
| ENST00000508380.1:n.154+8600G>A | ||
| ENST00000509642.5:n.327+4356G>A | ||
| ENST00000509702.5:n.191+8563G>A | ||
| ENST00000512169.1:n.327+4356G>A | ||
| ENST00000513205.5:c.234+11394G>A | ENSP00000421632.1:n.234+11394G>A | |
| ENST00000515534.5:n.307-7112G>A | ||
| ENST00000612355.1:c.222+11394G>A | ENSP00000479729.1:n.222+11394G>A | |
| ENST00000613098.4:c.-148+7371G>A | ENSP00000481498.1:n.-148+7371G>A | |
| ENST00000617484.4:c.222+11394G>A | ENSP00000477921.1:n.222+11394G>A | |
| NM_013261.3:c.234+11394G>A | NP_037393.1:n.234+11394G>A | |
| XM_005248130.2:c.249+11394G>A | XP_005248187.1:n.249+11394G>A | |
| XM_005248131.3:c.246+11394G>A | XP_005248188.1:n.246+11394G>A | |
| XM_005248132.1:c.225+11394G>A | XP_005248189.1:n.225+11394G>A | |
| XM_005248134.3:c.249+11394G>A | XP_005248191.1:n.249+11394G>A | |
| XM_011513764.1:c.234+11394G>A | XP_011512066.1:n.234+11394G>A | |
| XM_011513765.1:c.198+11394G>A | XP_011512067.1:n.198+11394G>A | |
| XM_011513766.1:c.129+4356G>A | XP_011512068.1:n.129+4356G>A | |
| XM_011513767.1:c.129+4356G>A | XP_011512069.1:n.129+4356G>A | |
| XM_011513768.1:c.129+4356G>A | XP_011512070.1:n.129+4356G>A | |
| XM_011513769.1:c.249+11394G>A | XP_011512071.1:n.249+11394G>A | |
| XM_011513770.1:c.-148+7371G>A | XP_011512072.1:n.-148+7371G>A | |
| XM_011513771.1:c.-148+8600G>A | XP_011512073.1:n.-148+8600G>A | |
| NM_001330751.1:c.249+11394G>A | NP_001317680.1:n.249+11394G>A | |
| NM_001330752.1:c.198+11394G>A | NP_001317681.1:n.198+11394G>A | |
| NM_001330753.1:c.-148+7371G>A | NP_001317682.1:n.-148+7371G>A | |
| NM_001354825.1:c.249+11394G>A | NP_001341754.1:n.249+11394G>A | |
| NM_001354826.1:c.-148+10953G>A | NP_001341755.1:n.-148+10953G>A | |
| NM_001354827.1:c.249+11394G>A | NP_001341756.1:n.249+11394G>A | |
| NM_013261.4:c.234+11394G>A | NP_037393.1:n.234+11394G>A | |
| NR_148981.1:n.700+11394G>A | ||
| NR_148982.1:n.803+11394G>A | ||
| NR_148983.1:n.956+4356G>A | ||
| NR_148984.1:n.354+11394G>A | ||
| NR_148985.1:n.868+11394G>A | ||
| NR_148986.1:n.700+11394G>A | ||
| NR_148987.1:n.700+11394G>A | ||
| XM_005248131.5:c.246+11394G>A | XP_005248188.1:n.246+11394G>A | |
| XM_005248134.4:c.249+11394G>A | XP_005248191.1:n.249+11394G>A | |
| XM_011513769.2:c.249+11394G>A | XP_011512071.1:n.249+11394G>A | |
| XM_024453878.1:c.249+11394G>A | XP_024309646.1:n.249+11394G>A | |
| NM_013261.5:c.234+11394G>A MANE Select | NP_037393.1:n.234+11394G>A | |
| NM_001330751.2:c.249+11394G>A | NP_001317680.1:n.249+11394G>A | |
| NM_001330752.2:c.198+11394G>A | NP_001317681.1:n.198+11394G>A | |
| NM_001354825.2:c.249+11394G>A | NP_001341754.1:n.249+11394G>A | |
| NM_001354826.2:c.-148+10953G>A | NP_001341755.1:n.-148+10953G>A | |
| NM_001354827.2:c.249+11394G>A | NP_001341756.1:n.249+11394G>A | |
| NR_148981.2:n.776+11394G>A | ||
| NR_148982.2:n.879+11394G>A | ||
| NR_148983.2:n.1032+4356G>A | ||
| NR_148984.2:n.324+11394G>A | ||
| NR_148985.2:n.944+11394G>A | ||
| NR_148986.2:n.776+11394G>A | ||
| NR_148987.2:n.776+11394G>A | ||
| NM_001330753.2:c.-148+7371G>A | NP_001317682.1:n.-148+7371G>A |