Linked Data
ClinVar Variation Id:
565487
dbSNP Id:
rs201759207
gnomAD v3:
7-117603644-G-C
gnomAD v4:
7-117603644-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603644G>C , CM000669.2:g.117603644G>C | GRCh38 |
| NC_000007.13:g.117243698G>C , CM000669.1:g.117243698G>C | GRCh37 |
| NC_000007.12:g.117030934G>C | NCBI36 |
| NG_016465.4:g.142861G>C , LRG_663:g.142861G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2770G>C | ENSP00000497673.2:p.Asp924His | |
| ENST00000647978.2:c.*2484G>C | ENSP00000497658.1:n.*2484G>C | |
| ENST00000649781.2:c.2587G>C | ENSP00000497203.1:p.Asp863His | |
| ENST00000685018.2:c.2770G>C | ENSP00000510194.2:p.Asp924His | |
| ENST00000687278.2:c.2770G>C | ENSP00000509593.2:p.Asp924His | |
| ENST00000699585.1:c.2770G>C | ENSP00000514456.1:p.Asp924His | |
| ENST00000699598.1:c.2770G>C | ENSP00000514467.1:p.Asp924His | |
| ENST00000699599.1:c.2770G>C | ENSP00000514468.1:p.Asp924His | |
| ENST00000699600.1:c.2770G>C | ENSP00000514469.1:p.Asp924His | |
| ENST00000699601.1:c.*1070G>C | ENSP00000514470.1:n.*1070G>C | |
| ENST00000699602.1:c.2770G>C | ENSP00000514471.1:p.Asp924His | |
| ENST00000699604.1:c.*2594G>C | ENSP00000514472.1:n.*2594G>C | |
| ENST00000699605.1:c.2344G>C | ENSP00000514473.1:p.Asp782His | |
| ENST00000687278.1:c.361G>C | ENSP00000509593.1:p.Asp121His | |
| ENST00000003084.11:c.2770G>C MANE Select | ENSP00000003084.6:p.Asp924His | |
| ENST00000647720.1:c.420G>C | ||
| ENST00000648260.1:c.1552G>C | ENSP00000497957.1:p.Asp518His | |
| ENST00000649406.1:c.2587G>C | ENSP00000497965.1:p.Asp863His | |
| ENST00000649781.1:c.2587G>C | ENSP00000497203.1:p.Asp863His | |
| ENST00000003084.10:c.2770G>C | ENSP00000003084.6:p.Asp924His | |
| ENST00000426809.5:c.2680G>C | ENSP00000389119.1:p.Asp894His | |
| NM_000492.3:c.2770G>C , LRG_663t1:c.2770G>C | NP_000483.3:p.Asp924His | |
| XM_011515751.1:c.2860G>C | XP_011514053.1:p.Asp954His | |
| XM_011515752.1:c.2860G>C | XP_011514054.1:p.Asp954His | |
| XM_011515753.1:c.2527G>C | XP_011514055.1:p.Asp843His | |
| XM_011515754.1:c.2527G>C | XP_011514056.1:p.Asp843His | |
| NM_000492.4:c.2770G>C MANE Select | NP_000483.3:p.Asp924His |