Linked Data
dbSNP Id:
rs371130330
ExAC:
8:101933024 G / C
gnomAD v2:
8-101933024-G-C
gnomAD v3:
8-100920796-G-C
gnomAD v4:
8-100920796-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100920796G>C , CM000670.2:g.100920796G>C | GRCh38 |
| NC_000008.10:g.101933024G>C , CM000670.1:g.101933024G>C | GRCh37 |
| NC_000008.9:g.102002200G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395958.6:c.679-44C>G MANE Select | ENSP00000379288.2:n.679-44C>G | |
| ENST00000353245.7:c.679-44C>G | ENSP00000309503.3:n.679-44C>G | |
| ENST00000395948.6:c.448-44C>G | ENSP00000379278.2:n.448-44C>G | |
| ENST00000395951.7:c.679-44C>G | ENSP00000379281.3:n.679-44C>G | |
| ENST00000395953.6:c.679-44C>G | ENSP00000379283.2:n.679-44C>G | |
| ENST00000395956.7:c.679-44C>G | ENSP00000379286.3:n.679-44C>G | |
| ENST00000395957.6:c.679-44C>G | ENSP00000379287.2:n.679-44C>G | |
| ENST00000395958.5:c.679-44C>G | ENSP00000379288.2:n.679-44C>G | |
| ENST00000419477.6:c.679-44C>G | ENSP00000395114.2:n.679-44C>G | |
| ENST00000457309.2:c.679-44C>G | ENSP00000398599.1:n.679-44C>G | |
| ENST00000521309.5:c.319-44C>G | ENSP00000429623.1:n.319-44C>G | |
| ENST00000521607.5:c.703-44C>G | ENSP00000430058.1:n.703-44C>G | |
| ENST00000522542.5:c.454-44C>G | ENSP00000430072.1:n.454-44C>G | |
| ENST00000522819.5:c.319-44C>G | ENSP00000428775.1:n.319-44C>G | |
| ENST00000523848.5:c.334-44C>G | ENSP00000428860.1:n.334-44C>G | |
| NM_001135699.1:c.679-44C>G | NP_001129171.1:n.679-44C>G | |
| NM_001135700.1:c.679-44C>G | NP_001129172.1:n.679-44C>G | |
| NM_001135701.1:c.679-44C>G | NP_001129173.1:n.679-44C>G | |
| NM_001135702.1:c.679-44C>G | NP_001129174.1:n.679-44C>G | |
| NM_003406.3:c.679-44C>G | NP_003397.1:n.679-44C>G | |
| NM_145690.2:c.679-44C>G | NP_663723.1:n.679-44C>G | |
| XM_005251061.2:c.679-44C>G | XP_005251118.1:n.679-44C>G | |
| XM_005251062.2:c.679-44C>G | XP_005251119.1:n.679-44C>G | |
| XM_005251063.2:c.679-44C>G | XP_005251120.1:n.679-44C>G | |
| XM_011517289.1:c.679-44C>G | XP_011515591.1:n.679-44C>G | |
| XM_005251061.3:c.679-44C>G | XP_005251118.1:n.679-44C>G | |
| XM_005251063.3:c.679-44C>G | XP_005251120.1:n.679-44C>G | |
| XM_017013810.2:c.679-44C>G | XP_016869299.1:n.679-44C>G | |
| XM_017013811.1:c.679-44C>G | XP_016869300.1:n.679-44C>G | |
| XM_024447266.1:c.679-44C>G | XP_024303034.1:n.679-44C>G | |
| NM_145690.3:c.679-44C>G MANE Select | NP_663723.1:n.679-44C>G | |
| NM_001135700.2:c.679-44C>G | NP_001129172.1:n.679-44C>G | |
| NM_001135701.2:c.679-44C>G | NP_001129173.1:n.679-44C>G | |
| NM_001135702.2:c.679-44C>G | NP_001129174.1:n.679-44C>G | |
| NM_003406.4:c.679-44C>G | NP_003397.1:n.679-44C>G | |
| NM_001135699.2:c.679-44C>G | NP_001129171.1:n.679-44C>G |