Linked Data
dbSNP Id:
rs712039
gnomAD v2:
17-35850553-C-T
gnomAD v3:
17-37490447-C-T
gnomAD v4:
17-37490447-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37490447C>T , CM000679.2:g.37490447C>T | GRCh38 |
| NC_000017.10:g.35850553C>T , CM000679.1:g.35850553C>T | GRCh37 |
| NC_000017.9:g.32924666C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617516.5:c.-181+489C>T MANE Select | ENSP00000478595.1:n.-181+489C>T | |
| ENST00000617516.4:c.-181+489C>T | ENSP00000478595.1:n.-181+489C>T | |
| NM_007026.3:c.-181+489C>T | NP_008957.1:n.-181+489C>T | |
| XM_011524234.1:c.-181+1492C>T | XP_011522536.1:n.-181+1492C>T | |
| XM_005256977.3:c.-1361C>T | XP_005257034.1:n.-1361C>T | |
| NM_007026.4:c.-181+489C>T MANE Select | NP_008957.1:n.-181+489C>T |