Linked Data
dbSNP Id:
rs13117172
gnomAD v2:
4-23880515-C-T
gnomAD v3:
4-23878892-C-T
gnomAD v4:
4-23878892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23878892C>T , CM000666.2:g.23878892C>T | GRCh38 |
| NC_000004.11:g.23880515C>T , CM000666.1:g.23880515C>T | GRCh37 |
| NC_000004.10:g.23489613C>T | NCBI36 |
| NG_028250.1:g.16186G>A | |
| NG_028250.2:g.599084G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264867.7:c.234+5860G>A MANE Select | ENSP00000264867.2:n.234+5860G>A | |
| ENST00000264867.6:c.234+5860G>A | ENSP00000264867.2:n.234+5860G>A | |
| ENST00000503714.1:n.181-2911G>A | ||
| ENST00000505469.1:n.237-1027G>A | ||
| ENST00000506055.5:c.234+5860G>A | ENSP00000423075.1:n.234+5860G>A | |
| ENST00000507342.5:n.314+5860G>A | ||
| ENST00000508380.1:n.154+3066G>A | ||
| ENST00000509642.5:n.176-1027G>A | ||
| ENST00000509702.5:n.191+3029G>A | ||
| ENST00000512169.1:n.176-1027G>A | ||
| ENST00000513205.5:c.234+5860G>A | ENSP00000421632.1:n.234+5860G>A | |
| ENST00000515534.5:n.306+5860G>A | ||
| ENST00000612355.1:c.222+5860G>A | ENSP00000479729.1:n.222+5860G>A | |
| ENST00000613098.4:c.-148+1837G>A | ENSP00000481498.1:n.-148+1837G>A | |
| ENST00000617484.4:c.222+5860G>A | ENSP00000477921.1:n.222+5860G>A | |
| NM_013261.3:c.234+5860G>A | NP_037393.1:n.234+5860G>A | |
| XM_005248130.2:c.249+5860G>A | XP_005248187.1:n.249+5860G>A | |
| XM_005248131.3:c.246+5860G>A | XP_005248188.1:n.246+5860G>A | |
| XM_005248132.1:c.225+5860G>A | XP_005248189.1:n.225+5860G>A | |
| XM_005248134.3:c.249+5860G>A | XP_005248191.1:n.249+5860G>A | |
| XM_011513764.1:c.234+5860G>A | XP_011512066.1:n.234+5860G>A | |
| XM_011513765.1:c.198+5860G>A | XP_011512067.1:n.198+5860G>A | |
| XM_011513766.1:c.-23-1027G>A | XP_011512068.1:n.-23-1027G>A | |
| XM_011513767.1:c.-23-1027G>A | XP_011512069.1:n.-23-1027G>A | |
| XM_011513768.1:c.-23-1027G>A | XP_011512070.1:n.-23-1027G>A | |
| XM_011513769.1:c.249+5860G>A | XP_011512071.1:n.249+5860G>A | |
| XM_011513770.1:c.-148+1837G>A | XP_011512072.1:n.-148+1837G>A | |
| XM_011513771.1:c.-148+3066G>A | XP_011512073.1:n.-148+3066G>A | |
| NM_001330751.1:c.249+5860G>A | NP_001317680.1:n.249+5860G>A | |
| NM_001330752.1:c.198+5860G>A | NP_001317681.1:n.198+5860G>A | |
| NM_001330753.1:c.-148+1837G>A | NP_001317682.1:n.-148+1837G>A | |
| NM_001354825.1:c.249+5860G>A | NP_001341754.1:n.249+5860G>A | |
| NM_001354826.1:c.-148+5419G>A | NP_001341755.1:n.-148+5419G>A | |
| NM_001354827.1:c.249+5860G>A | NP_001341756.1:n.249+5860G>A | |
| NM_013261.4:c.234+5860G>A | NP_037393.1:n.234+5860G>A | |
| NR_148981.1:n.700+5860G>A | ||
| NR_148982.1:n.803+5860G>A | ||
| NR_148983.1:n.805-1027G>A | ||
| NR_148984.1:n.354+5860G>A | ||
| NR_148985.1:n.868+5860G>A | ||
| NR_148986.1:n.700+5860G>A | ||
| NR_148987.1:n.700+5860G>A | ||
| XM_005248131.5:c.246+5860G>A | XP_005248188.1:n.246+5860G>A | |
| XM_005248134.4:c.249+5860G>A | XP_005248191.1:n.249+5860G>A | |
| XM_011513769.2:c.249+5860G>A | XP_011512071.1:n.249+5860G>A | |
| XM_024453878.1:c.249+5860G>A | XP_024309646.1:n.249+5860G>A | |
| NM_013261.5:c.234+5860G>A MANE Select | NP_037393.1:n.234+5860G>A | |
| NM_001330751.2:c.249+5860G>A | NP_001317680.1:n.249+5860G>A | |
| NM_001330752.2:c.198+5860G>A | NP_001317681.1:n.198+5860G>A | |
| NM_001354825.2:c.249+5860G>A | NP_001341754.1:n.249+5860G>A | |
| NM_001354826.2:c.-148+5419G>A | NP_001341755.1:n.-148+5419G>A | |
| NM_001354827.2:c.249+5860G>A | NP_001341756.1:n.249+5860G>A | |
| NR_148981.2:n.776+5860G>A | ||
| NR_148982.2:n.879+5860G>A | ||
| NR_148983.2:n.881-1027G>A | ||
| NR_148984.2:n.324+5860G>A | ||
| NR_148985.2:n.944+5860G>A | ||
| NR_148986.2:n.776+5860G>A | ||
| NR_148987.2:n.776+5860G>A | ||
| NM_001330753.2:c.-148+1837G>A | NP_001317682.1:n.-148+1837G>A |