Linked Data
ClinVar Variation Id:
1107234
ClinVar RCV Id:
RCV001432247
dbSNP Id:
rs2153916207
gnomAD v4:
1-43338092-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338092T>C , CM000663.2:g.43338092T>C | GRCh38 |
| NC_000001.10:g.43803763T>C , CM000663.1:g.43803763T>C | GRCh37 |
| NC_000001.9:g.43576350T>C | NCBI36 |
| NG_007525.1:g.5289T>C , LRG_510:g.5289T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.80-7T>C MANE Select | ENSP00000361548.3:n.80-7T>C | |
| ENST00000413998.7:c.80-28T>C | ENSP00000414004.3:n.80-28T>C | |
| ENST00000638732.1:n.80-7T>C | ||
| ENST00000372470.7:c.80-7T>C | ENSP00000361548.3:n.80-7T>C | |
| ENST00000413998.6:c.80-7T>C | ENSP00000414004.2:n.80-7T>C | |
| ENST00000612993.1:c.80-7T>C | ENSP00000480273.1:n.80-7T>C | |
| NM_005373.2:c.80-7T>C , LRG_510t1:c.80-7T>C | NP_005364.1:n.80-7T>C | |
| XM_011541478.1:c.80-28T>C | XP_011539780.1:n.80-28T>C | |
| XM_017001320.1:c.244T>C | XP_016856809.1:p.Ser82Pro | |
| NM_005373.3:c.80-7T>C MANE Select | NP_005364.1:n.80-7T>C |