Linked Data
ClinVar Variation Id:
305118
dbSNP Id:
rs764420497
ExAC:
11:61719436 G / T
gnomAD v2:
11-61719436-G-T
gnomAD v3:
11-61951964-G-T
gnomAD v4:
11-61951964-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61951964G>T , CM000673.2:g.61951964G>T | GRCh38 |
| NC_000011.9:g.61719436G>T , CM000673.1:g.61719436G>T | GRCh37 |
| NC_000011.8:g.61476012G>T | NCBI36 |
| NG_009033.1:g.7081G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.152+6G>T MANE Select | ENSP00000367282.4:n.152+6G>T | |
| ENST00000378043.8:c.152+6G>T | ENSP00000367282.4:n.152+6G>T | |
| ENST00000449131.6:c.-29+1537G>T | ENSP00000399709.2:n.-29+1537G>T | |
| ENST00000524877.5:n.68+1537G>T | ||
| ENST00000524926.5:c.152+6G>T | ENSP00000432681.1:n.152+6G>T | |
| ENST00000529265.5:n.75+1537G>T | ||
| ENST00000533521.5:n.260+6G>T | ||
| ENST00000534553.5:c.-212+1537G>T | ENSP00000431189.1:n.-212+1537G>T | |
| NM_001139443.1:c.-29+1537G>T | NP_001132915.1:n.-29+1537G>T | |
| NM_001300786.1:c.-29+1537G>T | NP_001287715.1:n.-29+1537G>T | |
| NM_001300787.1:c.-29+1537G>T | NP_001287716.1:n.-29+1537G>T | |
| NM_004183.3:c.152+6G>T | NP_004174.1:n.152+6G>T | |
| XM_005274210.2:c.152+6G>T | XP_005274267.1:n.152+6G>T | |
| XM_005274216.2:c.-29+1537G>T | XP_005274273.1:n.-29+1537G>T | |
| XM_005274218.3:c.-212+1537G>T | XP_005274275.1:n.-212+1537G>T | |
| XM_005274219.2:c.152+6G>T | XP_005274276.1:n.152+6G>T | |
| XM_005274221.2:c.152+6G>T | XP_005274278.1:n.152+6G>T | |
| XM_011545229.1:c.152+6G>T | XP_011543531.1:n.152+6G>T | |
| XM_011545230.1:c.60-3143G>T | XP_011543532.1:n.60-3143G>T | |
| XM_011545231.1:c.-212+1537G>T | XP_011543533.1:n.-212+1537G>T | |
| XM_011545232.1:c.152+6G>T | XP_011543534.1:n.152+6G>T | |
| NM_001363592.1:c.152+6G>T | NP_001350521.1:n.152+6G>T | |
| NR_134580.1:n.732+6G>T | ||
| XM_005274210.4:c.152+6G>T | XP_005274267.1:n.152+6G>T | |
| XM_005274216.4:c.-29+1537G>T | XP_005274273.1:n.-29+1537G>T | |
| XM_005274219.4:c.152+6G>T | XP_005274276.1:n.152+6G>T | |
| XM_005274221.4:c.152+6G>T | XP_005274278.1:n.152+6G>T | |
| XM_011545229.3:c.152+6G>T | XP_011543531.1:n.152+6G>T | |
| XM_011545230.3:c.60-3143G>T | XP_011543532.1:n.60-3143G>T | |
| XR_001747952.2:n.650+1537G>T | ||
| XR_001747953.2:n.842+6G>T | ||
| XR_001747954.2:n.842+6G>T | ||
| NM_004183.4:c.152+6G>T MANE Select | NP_004174.1:n.152+6G>T | |
| NM_001139443.2:c.-29+1537G>T | NP_001132915.1:n.-29+1537G>T | |
| NM_001300786.2:c.-29+1537G>T | NP_001287715.1:n.-29+1537G>T | |
| NM_001300787.2:c.-29+1537G>T | NP_001287716.1:n.-29+1537G>T | |
| NR_134580.2:n.265+6G>T |