Linked Data
ClinVar Variation Id:
39516
ClinVar RCV Id:
RCV000032712
RCV000757078
RCV000781258
RCV001004494
RCV001831623
RCV002496491
RCV003466886
dbSNP Id:
rs36210737
ExAC:
7:117251797 T / A
gnomAD v2:
7-117251797-T-A
gnomAD v3:
7-117611743-T-A
gnomAD v4:
7-117611743-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611743T>A , CM000669.2:g.117611743T>A | GRCh38 |
| NC_000007.13:g.117251797T>A , CM000669.1:g.117251797T>A | GRCh37 |
| NC_000007.12:g.117039033T>A | NCBI36 |
| NG_016465.4:g.150960T>A , LRG_663:g.150960T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3302T>A | ENSP00000497673.2:p.Met1101Lys | |
| ENST00000647978.2:c.*3016T>A | ENSP00000497658.1:n.*3016T>A | |
| ENST00000649781.2:c.3119T>A | ENSP00000497203.1:p.Met1040Lys | |
| ENST00000685018.2:c.3302T>A | ENSP00000510194.2:p.Met1101Lys | |
| ENST00000687278.2:c.3302T>A | ENSP00000509593.2:p.Met1101Lys | |
| ENST00000699585.1:c.3302T>A | ENSP00000514456.1:p.Met1101Lys | |
| ENST00000699598.1:c.3302T>A | ENSP00000514467.1:p.Met1101Lys | |
| ENST00000699599.1:c.3302T>A | ENSP00000514468.1:p.Met1101Lys | |
| ENST00000699600.1:c.3302T>A | ENSP00000514469.1:p.Met1101Lys | |
| ENST00000699601.1:c.*1602T>A | ENSP00000514470.1:n.*1602T>A | |
| ENST00000699602.1:c.3302T>A | ENSP00000514471.1:p.Met1101Lys | |
| ENST00000699604.1:c.*3126T>A | ENSP00000514472.1:n.*3126T>A | |
| ENST00000699605.1:c.2876T>A | ENSP00000514473.1:p.Met959Lys | |
| ENST00000685018.1:c.50T>A | ENSP00000510194.1:p.Met17Lys | |
| ENST00000687278.1:c.893T>A | ENSP00000509593.1:p.Met298Lys | |
| ENST00000003084.11:c.3302T>A MANE Select | ENSP00000003084.6:p.Met1101Lys | |
| ENST00000647720.1:c.952T>A | ||
| ENST00000648260.1:c.2084T>A | ENSP00000497957.1:p.Met695Lys | |
| ENST00000649406.1:c.3119T>A | ENSP00000497965.1:p.Met1040Lys | |
| ENST00000649781.1:c.3119T>A | ENSP00000497203.1:p.Met1040Lys | |
| ENST00000003084.10:c.3302T>A | ENSP00000003084.6:p.Met1101Lys | |
| ENST00000426809.5:c.3212T>A | ENSP00000389119.1:p.Met1071Lys | |
| ENST00000468795.1:c.127T>A | ||
| NM_000492.3:c.3302T>A , LRG_663t1:c.3302T>A | NP_000483.3:p.Met1101Lys | |
| XM_011515751.1:c.3392T>A | XP_011514053.1:p.Met1131Lys | |
| XM_011515752.1:c.3392T>A | XP_011514054.1:p.Met1131Lys | |
| XM_011515753.1:c.3059T>A | XP_011514055.1:p.Met1020Lys | |
| XM_011515754.1:c.3059T>A | XP_011514056.1:p.Met1020Lys | |
| NM_000492.4:c.3302T>A MANE Select | NP_000483.3:p.Met1101Lys |