Linked Data
dbSNP Id:
rs188080621
ExAC:
19:41847770 C / A
gnomAD v2:
19-41847770-C-A
gnomAD v4:
19-41341865-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341865C>A , CM000681.2:g.41341865C>A | GRCh38 |
| NC_000019.9:g.41847770C>A , CM000681.1:g.41847770C>A | GRCh37 |
| NC_000019.8:g.46539610C>A | NCBI36 |
| NG_013364.1:g.17062G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.860+18G>T MANE Select | ENSP00000221930.4:n.860+18G>T | |
| ENST00000600196.2:c.712+305G>T | ENSP00000504008.1:n.712+305G>T | |
| ENST00000677934.1:c.634+2882G>T | ENSP00000504769.1:n.634+2882G>T | |
| ENST00000221930.5:c.860+18G>T | ENSP00000221930.4:n.860+18G>T | |
| ENST00000598758.5:c.148+18G>T | ||
| ENST00000600196.1:n.172+305G>T | ||
| NM_000660.5:c.860+18G>T | NP_000651.3:n.860+18G>T | |
| XM_011527242.1:c.863+18G>T | XP_011525544.1:n.863+18G>T | |
| NM_000660.6:c.860+18G>T | NP_000651.3:n.860+18G>T | |
| XM_011527242.2:c.863+18G>T | XP_011525544.1:n.863+18G>T | |
| NM_000660.7:c.860+18G>T MANE Select | NP_000651.3:n.860+18G>T |