Linked Data
dbSNP Id:
rs1237551526
gnomAD v2:
17-13972836-G-C
gnomAD v3:
17-14069519-G-C
gnomAD v4:
17-14069519-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069519G>C , CM000679.2:g.14069519G>C | GRCh38 |
| NC_000017.10:g.13972836G>C , CM000679.1:g.13972836G>C | GRCh37 |
| NC_000017.9:g.13913561G>C | NCBI36 |
| NG_008034.1:g.5118G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.-87G>C MANE Select | ENSP00000261643.3:n.-87G>C | |
| ENST00000664217.1:c.-87G>C | ENSP00000499396.1:n.-87G>C | |
| ENST00000670279.1:c.-87G>C | ENSP00000499450.1:n.-87G>C | |
| ENST00000429152.6:c.-87G>C | ENSP00000397750.2:n.-87G>C | |
| NM_001303.3:c.-87G>C | NP_001294.2:n.-87G>C | |
| XM_005256458.1:c.-87G>C | XP_005256515.1:n.-87G>C | |
| XM_011523657.1:c.-87G>C | XP_011521959.1:n.-87G>C | |
| XM_011523658.1:c.-538G>C | XP_011521960.1:n.-538G>C | |
| XR_933974.1:n.17G>C | ||
| XR_933975.1:n.17G>C | ||
| NM_001303.4:c.-87G>C MANE Select | NP_001294.2:n.-87G>C |