Linked Data
ClinVar Variation Id:
372409
dbSNP Id:
rs752453717
ExAC:
1:43804396 G / C
gnomAD v2:
1-43804396-G-C
gnomAD v3:
1-43338725-G-C
gnomAD v4:
1-43338725-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338725G>C , CM000663.2:g.43338725G>C | GRCh38 |
| NC_000001.10:g.43804396G>C , CM000663.1:g.43804396G>C | GRCh37 |
| NC_000001.9:g.43576983G>C | NCBI36 |
| NG_007525.1:g.5922G>C , LRG_510:g.5922G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372470.9:c.391+5G>C MANE Select | ENSP00000361548.3:n.391+5G>C | |
| ENST00000413998.7:c.370+5G>C | ENSP00000414004.3:n.370+5G>C | |
| ENST00000638732.1:n.391+5G>C | ||
| ENST00000372470.7:c.391+5G>C | ENSP00000361548.3:n.391+5G>C | |
| ENST00000413998.6:c.391+5G>C | ENSP00000414004.2:n.391+5G>C | |
| ENST00000612993.1:c.391+5G>C | ENSP00000480273.1:n.391+5G>C | |
| NM_005373.2:c.391+5G>C , LRG_510t1:c.391+5G>C | NP_005364.1:n.391+5G>C | |
| XM_011541478.1:c.370+5G>C | XP_011539780.1:n.370+5G>C | |
| XM_017001320.1:c.562+5G>C | XP_016856809.1:n.562+5G>C | |
| NM_005373.3:c.391+5G>C MANE Select | NP_005364.1:n.391+5G>C |