Linked Data
dbSNP Id:
rs1479378243
gnomAD v2:
7-117120043-G-C
gnomAD v3:
7-117479989-G-C
gnomAD v4:
7-117479989-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479989G>C , CM000669.2:g.117479989G>C | GRCh38 |
| NC_000007.13:g.117120043G>C , CM000669.1:g.117120043G>C | GRCh37 |
| NC_000007.12:g.116907279G>C | NCBI36 |
| NG_016465.4:g.19206G>C , LRG_663:g.19206G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.-106G>C | ENSP00000497673.2:n.-106G>C | |
| ENST00000685018.2:c.-106G>C | ENSP00000510194.2:n.-106G>C | |
| ENST00000687278.2:c.-106G>C | ENSP00000509593.2:n.-106G>C | |
| ENST00000699585.1:c.-106G>C | ENSP00000514456.1:n.-106G>C | |
| ENST00000699596.1:c.-106G>C | ENSP00000514465.1:n.-106G>C | |
| ENST00000699597.1:c.-106G>C | ENSP00000514466.1:n.-106G>C | |
| ENST00000699598.1:c.-106G>C | ENSP00000514467.1:n.-106G>C | |
| ENST00000699599.1:c.-106G>C | ENSP00000514468.1:n.-106G>C | |
| ENST00000699600.1:c.-106G>C | ENSP00000514469.1:n.-106G>C | |
| ENST00000699601.1:c.-106G>C | ENSP00000514470.1:n.-106G>C | |
| ENST00000699602.1:c.-106G>C | ENSP00000514471.1:n.-106G>C | |
| ENST00000446805.2:c.-191+295G>C | ENSP00000417012.1:n.-191+295G>C | |
| ENST00000673785.1:c.-406+14158G>C | ENSP00000501235.1:n.-406+14158G>C | |
| ENST00000003084.10:c.-106G>C | ENSP00000003084.6:n.-106G>C | |
| ENST00000446805.1:c.-191+295G>C | ENSP00000417012.1:n.-191+295G>C | |
| ENST00000546407.1:n.166+4181G>C | ||
| NM_000492.3:c.-106G>C , LRG_663t1:c.-106G>C | NP_000483.3:n.-106G>C | |
| XM_011515751.1:c.143+644G>C | XP_011514053.1:n.143+644G>C | |
| XM_011515752.1:c.143+644G>C | XP_011514054.1:n.143+644G>C | |
| XM_011515753.1:c.-191+295G>C | XP_011514055.1:n.-191+295G>C | |
| XM_011515754.1:c.-518-159G>C | XP_011514056.1:n.-518-159G>C |