Linked Data
dbSNP Id:
rs770189705
ExAC:
7:55259618 G / T
gnomAD v2:
7-55259618-G-T
gnomAD v4:
7-55191925-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191925G>T , CM000669.2:g.55191925G>T | GRCh38 |
| NC_000007.13:g.55259618G>T , CM000669.1:g.55259618G>T | GRCh37 |
| NC_000007.12:g.55227112G>T | NCBI36 |
| NG_007726.3:g.177894G>T , LRG_304:g.177894G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2466+51G>T | ENSP00000413354.2:n.2466+51G>T | |
| ENST00000700145.1:c.899+126G>T | ||
| ENST00000275493.7:c.2625+51G>T MANE Select | ENSP00000275493.2:n.2625+51G>T | |
| ENST00000275493.6:c.2625+51G>T | ENSP00000275493.2:n.2625+51G>T | |
| ENST00000442591.5:c.*28+18997G>T | ENSP00000410031.1:n.*28+18997G>T | |
| ENST00000454757.6:c.2490+51G>T | ENSP00000395243.3:n.2490+51G>T | |
| ENST00000455089.5:c.2490+51G>T | ENSP00000415559.1:n.2490+51G>T | |
| NM_005228.3:c.2625+51G>T , LRG_304t1:c.2625+51G>T | NP_005219.2:n.2625+51G>T | |
| NM_001346897.1:c.2490+51G>T | NP_001333826.1:n.2490+51G>T | |
| NM_001346898.1:c.2625+51G>T | NP_001333827.1:n.2625+51G>T | |
| NM_001346899.1:c.2490+51G>T | NP_001333828.1:n.2490+51G>T | |
| NM_001346900.1:c.2466+51G>T | NP_001333829.1:n.2466+51G>T | |
| NM_001346941.1:c.1824+51G>T | NP_001333870.1:n.1824+51G>T | |
| NM_005228.4:c.2625+51G>T | NP_005219.2:n.2625+51G>T | |
| NM_005228.5:c.2625+51G>T MANE Select | NP_005219.2:n.2625+51G>T | |
| NM_001346897.2:c.2490+51G>T | NP_001333826.1:n.2490+51G>T | |
| NM_001346898.2:c.2625+51G>T | NP_001333827.1:n.2625+51G>T | |
| NM_001346900.2:c.2466+51G>T | NP_001333829.1:n.2466+51G>T | |
| NM_001346941.2:c.1824+51G>T | NP_001333870.1:n.1824+51G>T | |
| NM_001346899.2:c.2490+51G>T | NP_001333828.1:n.2490+51G>T |