Linked Data
dbSNP Id:
rs1161989168
gnomAD v4:
1-147907870-C-T
MyVariant Identifiers:
chr1:g.147907870C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147907870C>T , CM000663.2:g.147907870C>T | GRCh38 |
| NC_000001.10:g.147379997C>T , CM000663.1:g.147379997C>T | GRCh37 |
| NC_000001.9:g.145846621C>T | NCBI36 |
| NG_016242.1:g.10052C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.-11-75C>T MANE Select | ENSP00000358238.1:n.-11-75C>T | |
| NM_005267.4:c.-11-75C>T | NP_005258.2:n.-11-75C>T | |
| XM_011509416.1:c.-86C>T | XP_011507718.1:n.-86C>T | |
| XM_011509417.1:c.-86C>T | XP_011507719.1:n.-86C>T | |
| XM_011509417.2:c.-86C>T | XP_011507719.1:n.-86C>T | |
| XR_002956281.1:n.830C>T | ||
| NM_005267.5:c.-11-75C>T MANE Select | NP_005258.2:n.-11-75C>T |