Linked Data
ClinVar Variation Id:
474354
ClinVar RCV Id:
RCV000539818
dbSNP Id:
rs1186858080
gnomAD v4:
4-183697569-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183697569G>T , CM000666.2:g.183697569G>T | GRCh38 |
| NC_000004.11:g.184618722G>T , CM000666.1:g.184618722G>T | GRCh37 |
| NC_000004.10:g.184855716G>T | NCBI36 |
| NG_033102.1:g.43303G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.2694+1G>T MANE Select | ENSP00000335371.6:n.2694+1G>T | |
| ENST00000334690.10:c.2694+1G>T | ENSP00000335371.6:n.2694+1G>T | |
| ENST00000357207.8:c.2694+1G>T | ENSP00000349738.4:n.2694+1G>T | |
| ENST00000505676.5:c.*808+1G>T | ENSP00000422915.1:n.*808+1G>T | |
| ENST00000512476.1:c.1512+1G>T | ENSP00000421004.1:n.1512+1G>T | |
| NM_021942.5:c.2694+1G>T | NP_068761.4:n.2694+1G>T | |
| NM_199053.2:c.2694+1G>T | NP_951008.1:n.2694+1G>T | |
| XM_011532180.1:c.2694+1G>T | XP_011530482.1:n.2694+1G>T | |
| XM_017008537.2:c.2694+1G>T | XP_016864026.1:n.2694+1G>T | |
| XM_017008538.2:c.2694+1G>T | XP_016864027.1:n.2694+1G>T | |
| XM_024454179.1:c.2694+1G>T | XP_024309947.1:n.2694+1G>T | |
| XM_024454180.1:c.2694+1G>T | XP_024309948.1:n.2694+1G>T | |
| XM_024454181.1:c.1344+1G>T | XP_024309949.1:n.1344+1G>T | |
| XR_001741315.2:n.2886+1G>T | ||
| NM_021942.6:c.2694+1G>T MANE Select | NP_068761.4:n.2694+1G>T | |
| NM_199053.3:c.2694+1G>T | NP_951008.1:n.2694+1G>T |