Linked Data
dbSNP Id:
rs1159875839
gnomAD v2:
1-17444681-G-A
gnomAD v3:
1-17118186-G-A
gnomAD v4:
1-17118186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17118186G>A , CM000663.2:g.17118186G>A | GRCh38 |
| NC_000001.10:g.17444681G>A , CM000663.1:g.17444681G>A | GRCh37 |
| NC_000001.9:g.17317268G>A | NCBI36 |
| NG_033958.1:g.6268C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375486.9:c.92+1094C>T MANE Select | ENSP00000364635.4:n.92+1094C>T | |
| ENST00000375481.1:c.92+1094C>T | ENSP00000364630.1:n.92+1094C>T | |
| ENST00000375486.8:c.92+1094C>T | ENSP00000364635.4:n.92+1094C>T | |
| NM_007365.2:c.92+1094C>T | NP_031391.2:n.92+1094C>T | |
| XM_011540549.1:c.92+1094C>T | XP_011538851.1:n.92+1094C>T | |
| XR_947004.1:n.4762G>A | ||
| XR_001736944.1:n.174+1094C>T | ||
| NM_007365.3:c.92+1094C>T MANE Select | NP_031391.2:n.92+1094C>T |