Linked Data
ClinVar Variation Id:
307096
dbSNP Id:
rs377547988
ExAC:
12:110019363 T / C
gnomAD v2:
12-110019363-T-C
gnomAD v3:
12-109581558-T-C
gnomAD v4:
12-109581558-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109581558T>C , CM000674.2:g.109581558T>C | GRCh38 |
| NC_000012.11:g.110019363T>C , CM000674.1:g.110019363T>C | GRCh37 |
| NC_000012.10:g.108503746T>C | NCBI36 |
| NG_007702.1:g.12864T>C , LRG_156:g.12864T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-92+7685T>C | ENSP00000439134.1:n.-92+7685T>C | |
| ENST00000546277.6:c.527+8T>C | ENSP00000438153.2:n.527+8T>C | |
| ENST00000636529.2:n.79-4464T>C | ||
| ENST00000697195.1:c.*291+8T>C | ENSP00000513181.1:n.*291+8T>C | |
| ENST00000697196.1:c.527+8T>C | ENSP00000513182.1:n.527+8T>C | |
| ENST00000228510.8:c.527+8T>C MANE Select | ENSP00000228510.3:n.527+8T>C | |
| ENST00000636529.1:c.65-4464T>C | ||
| ENST00000636996.1:c.375+8T>C | ||
| ENST00000228510.7:c.527+8T>C | ENSP00000228510.3:n.527+8T>C | |
| ENST00000392727.7:c.371+1612T>C | ENSP00000376487.3:n.371+1612T>C | |
| ENST00000447878.6:c.227-4464T>C | ENSP00000415555.2:n.227-4464T>C | |
| ENST00000535044.1:n.472-4464T>C | ||
| ENST00000537237.5:c.*291+8T>C | ENSP00000445382.1:n.*291+8T>C | |
| ENST00000539575.4:c.527+8T>C | ENSP00000443551.2:n.527+8T>C | |
| ENST00000539696.5:c.-92+7685T>C | ENSP00000439134.1:n.-92+7685T>C | |
| ENST00000545516.1:n.72+8T>C | ||
| ENST00000545774.5:c.227-4464T>C | ENSP00000443978.1:n.227-4464T>C | |
| ENST00000546277.5:c.527+8T>C | ENSP00000438153.1:n.527+8T>C | |
| ENST00000625889.2:c.371+1612T>C | ENSP00000486846.1:n.371+1612T>C | |
| ENST00000629016.2:c.227-4464T>C | ENSP00000486804.1:n.227-4464T>C | |
| NM_000431.3:c.527+8T>C | NP_000422.1:n.527+8T>C | |
| NM_001114185.2:c.527+8T>C | NP_001107657.1:n.527+8T>C | |
| NM_001301182.1:c.371+1612T>C | NP_001288111.1:n.371+1612T>C | |
| XM_011538372.1:c.527+8T>C | XP_011536674.1:n.527+8T>C | |
| XM_017019313.2:c.371+1612T>C | XP_016874802.1:n.371+1612T>C | |
| XM_017019314.1:c.527+8T>C | XP_016874803.1:n.527+8T>C | |
| XM_024448982.1:c.527+8T>C | XP_024304750.1:n.527+8T>C | |
| NM_000431.4:c.527+8T>C MANE Select | NP_000422.1:n.527+8T>C | |
| NM_001114185.3:c.527+8T>C | NP_001107657.1:n.527+8T>C | |
| NM_001301182.2:c.371+1612T>C | NP_001288111.1:n.371+1612T>C |