Linked Data
dbSNP Id:
rs542934949
gnomAD v2:
2-25126559-G-A
gnomAD v3:
2-24903690-G-A
gnomAD v4:
2-24903690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24903690G>A , CM000664.2:g.24903690G>A | GRCh38 |
| NC_000002.11:g.25126559G>A , CM000664.1:g.25126559G>A | GRCh37 |
| NC_000002.10:g.24980063G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.675+14623C>T | ENSP00000384484.2:n.675+14623C>T | |
| ENST00000679454.1:c.675+14623C>T MANE Select | ENSP00000505261.1:n.675+14623C>T | |
| ENST00000260600.9:c.675+14623C>T | ENSP00000260600.5:n.675+14623C>T | |
| ENST00000405392.5:c.675+14623C>T | ENSP00000384484.2:n.675+14623C>T | |
| ENST00000435135.5:c.675+14623C>T | ENSP00000389799.1:n.675+14623C>T | |
| NM_004036.3:c.675+14623C>T | NP_004027.2:n.675+14623C>T | |
| XM_005264104.1:c.675+14623C>T | XP_005264161.1:n.675+14623C>T | |
| XM_005264105.1:c.675+14623C>T | XP_005264162.1:n.675+14623C>T | |
| XM_006711925.1:c.675+14623C>T | XP_006711988.1:n.675+14623C>T | |
| XM_011532489.1:c.675+14623C>T | XP_011530791.1:n.675+14623C>T | |
| XM_011532490.1:c.675+14623C>T | XP_011530792.1:n.675+14623C>T | |
| XM_011532491.1:c.675+14623C>T | XP_011530793.1:n.675+14623C>T | |
| XM_011532492.1:c.675+14623C>T | XP_011530794.1:n.675+14623C>T | |
| XM_011532493.1:c.675+14623C>T | XP_011530795.1:n.675+14623C>T | |
| XM_011532494.1:c.675+14623C>T | XP_011530796.1:n.675+14623C>T | |
| NM_001320613.1:c.675+14623C>T | NP_001307542.1:n.675+14623C>T | |
| NM_004036.4:c.675+14623C>T | NP_004027.2:n.675+14623C>T | |
| XM_011532492.2:c.675+14623C>T | XP_011530794.1:n.675+14623C>T | |
| XM_017003186.1:c.675+14623C>T | XP_016858675.1:n.675+14623C>T | |
| XM_017003187.1:c.675+14623C>T | XP_016858676.1:n.675+14623C>T | |
| XM_017003188.1:c.675+14623C>T | XP_016858677.1:n.675+14623C>T | |
| XM_017003189.1:c.675+14623C>T | XP_016858678.1:n.675+14623C>T | |
| XM_017003190.1:c.675+14623C>T | XP_016858679.1:n.675+14623C>T | |
| NM_001320613.2:c.675+14623C>T | NP_001307542.1:n.675+14623C>T | |
| NM_001377128.1:c.675+14623C>T | NP_001364057.1:n.675+14623C>T | |
| NM_001377129.1:c.675+14623C>T | NP_001364058.1:n.675+14623C>T | |
| NM_001377130.1:c.675+14623C>T | NP_001364059.1:n.675+14623C>T | |
| NM_001377132.1:c.675+14623C>T | NP_001364061.1:n.675+14623C>T | |
| NM_004036.5:c.675+14623C>T MANE Select | NP_004027.2:n.675+14623C>T |