Linked Data
dbSNP Id:
rs4792847
gnomAD v2:
17-43383484-G-A
gnomAD v3:
17-45306118-G-A
gnomAD v4:
17-45306118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45306118G>A , CM000679.2:g.45306118G>A | GRCh38 |
| NC_000017.10:g.43383484G>A , CM000679.1:g.43383484G>A | GRCh37 |
| NC_000017.9:g.40739267G>A | NCBI36 |
| NG_033823.1:g.15931C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344686.8:c.-21+10842C>T MANE Select | ENSP00000478552.1:n.-21+10842C>T | |
| ENST00000617331.3:c.-21+6167C>T | ENSP00000480974.3:n.-21+6167C>T | |
| ENST00000344686.6:c.-21+10842C>T | ENSP00000478552.1:n.-21+10842C>T | |
| ENST00000617331.1:c.-21+10842C>T | ENSP00000480974.1:n.-21+10842C>T | |
| NM_003954.4:c.-21+10842C>T | NP_003945.2:n.-21+10842C>T | |
| XM_011525441.1:c.-21+6167C>T | XP_011523743.1:n.-21+6167C>T | |
| XR_934591.1:n.89+10842C>T | ||
| NM_003954.5:c.-21+10842C>T MANE Select | NP_003945.2:n.-21+10842C>T | |
| XM_011525441.2:c.-21+6167C>T | XP_011523743.1:n.-21+6167C>T |