Linked Data
dbSNP Id:
rs17581834
gnomAD v2:
1-206976119-T-C
gnomAD v3:
1-206802774-T-C
gnomAD v4:
1-206802774-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206802774T>C , CM000663.2:g.206802774T>C | GRCh38 |
| NC_000001.10:g.206976119T>C , CM000663.1:g.206976119T>C | GRCh37 |
| NC_000001.9:g.205042742T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000659997.3:c.-3+3768T>C MANE Select | ENSP00000499459.2:n.-3+3768T>C | |
| ENST00000656872.2:c.-3+3768T>C | ENSP00000499487.2:n.-3+3768T>C | |
| ENST00000659997.2:c.-3+3768T>C | ENSP00000499459.2:n.-3+3768T>C | |
| ENST00000662320.1:n.213+3768T>C | ||
| ENST00000340758.6:c.112+3768T>C | ENSP00000343000.2:n.112+3768T>C | |
| NM_153758.2:c.112+3768T>C | NP_715639.1:n.112+3768T>C | |
| NM_153758.3:c.112+3768T>C | NP_715639.1:n.112+3768T>C | |
| NM_001393490.1:c.-3+3768T>C | NP_001380419.1:n.-3+3768T>C | |
| NM_153758.5:c.-3+3768T>C MANE Select | NP_715639.2:n.-3+3768T>C |