Linked Data
dbSNP Id:
rs894955395
gnomAD v2:
4-23825743-T-A
gnomAD v3:
4-23824120-T-A
gnomAD v4:
4-23824120-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23824120T>A , CM000666.2:g.23824120T>A | GRCh38 |
| NC_000004.11:g.23825743T>A , CM000666.1:g.23825743T>A | GRCh37 |
| NC_000004.10:g.23434841T>A | NCBI36 |
| NG_028250.1:g.70958A>T | |
| NG_028250.2:g.653856A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.877+160A>T MANE Select | ENSP00000264867.2:n.877+160A>T | |
| ENST00000264867.6:c.877+160A>T | ENSP00000264867.2:n.877+160A>T | |
| ENST00000506055.5:c.*92+160A>T | ENSP00000423075.1:n.*92+160A>T | |
| ENST00000509642.5:n.970+160A>T | ||
| ENST00000509702.5:n.917+160A>T | ||
| ENST00000513205.5:c.877+160A>T | ENSP00000421632.1:n.877+160A>T | |
| ENST00000613098.4:c.496+160A>T | ENSP00000481498.1:n.496+160A>T | |
| ENST00000617484.4:c.865+160A>T | ENSP00000477921.1:n.865+160A>T | |
| NM_013261.3:c.877+160A>T | NP_037393.1:n.877+160A>T | |
| XM_005248130.2:c.892+160A>T | XP_005248187.1:n.892+160A>T | |
| XM_005248131.3:c.889+160A>T | XP_005248188.1:n.889+160A>T | |
| XM_005248132.1:c.868+160A>T | XP_005248189.1:n.868+160A>T | |
| XM_005248134.3:c.892+160A>T | XP_005248191.1:n.892+160A>T | |
| XM_011513764.1:c.877+160A>T | XP_011512066.1:n.877+160A>T | |
| XM_011513765.1:c.841+160A>T | XP_011512067.1:n.841+160A>T | |
| XM_011513766.1:c.772+160A>T | XP_011512068.1:n.772+160A>T | |
| XM_011513767.1:c.772+160A>T | XP_011512069.1:n.772+160A>T | |
| XM_011513768.1:c.772+160A>T | XP_011512070.1:n.772+160A>T | |
| XM_011513769.1:c.892+160A>T | XP_011512071.1:n.892+160A>T | |
| XM_011513770.1:c.496+160A>T | XP_011512072.1:n.496+160A>T | |
| XM_011513771.1:c.496+160A>T | XP_011512073.1:n.496+160A>T | |
| NM_001330751.1:c.892+160A>T | NP_001317680.1:n.892+160A>T | |
| NM_001330752.1:c.841+160A>T | NP_001317681.1:n.841+160A>T | |
| NM_001330753.1:c.496+160A>T | NP_001317682.1:n.496+160A>T | |
| NM_001354825.1:c.892+160A>T | NP_001341754.1:n.892+160A>T | |
| NM_001354826.1:c.496+160A>T | NP_001341755.1:n.496+160A>T | |
| NM_001354827.1:c.892+160A>T | NP_001341756.1:n.892+160A>T | |
| NM_013261.4:c.877+160A>T | NP_037393.1:n.877+160A>T | |
| NR_148981.1:n.1404+160A>T | ||
| NR_148982.1:n.1477+160A>T | ||
| NR_148983.1:n.1630+160A>T | ||
| NR_148984.1:n.1028+160A>T | ||
| NR_148985.1:n.1542+160A>T | ||
| NR_148986.1:n.1343+160A>T | ||
| NR_148987.1:n.1425+160A>T | ||
| XM_005248131.5:c.889+160A>T | XP_005248188.1:n.889+160A>T | |
| XM_005248134.4:c.892+160A>T | XP_005248191.1:n.892+160A>T | |
| XM_011513769.2:c.892+160A>T | XP_011512071.1:n.892+160A>T | |
| XM_024453878.1:c.892+160A>T | XP_024309646.1:n.892+160A>T | |
| NM_013261.5:c.877+160A>T MANE Select | NP_037393.1:n.877+160A>T | |
| NM_001330751.2:c.892+160A>T | NP_001317680.1:n.892+160A>T | |
| NM_001330752.2:c.841+160A>T | NP_001317681.1:n.841+160A>T | |
| NM_001354825.2:c.892+160A>T | NP_001341754.1:n.892+160A>T | |
| NM_001354826.2:c.496+160A>T | NP_001341755.1:n.496+160A>T | |
| NM_001354827.2:c.892+160A>T | NP_001341756.1:n.892+160A>T | |
| NR_148981.2:n.1480+160A>T | ||
| NR_148982.2:n.1553+160A>T | ||
| NR_148983.2:n.1706+160A>T | ||
| NR_148984.2:n.998+160A>T | ||
| NR_148985.2:n.1618+160A>T | ||
| NR_148986.2:n.1419+160A>T | ||
| NR_148987.2:n.1501+160A>T | ||
| NM_001330753.2:c.496+160A>T | NP_001317682.1:n.496+160A>T |