Linked Data
ClinVar Variation Id:
2453626
ClinVar RCV Id:
RCV003187761
dbSNP Id:
rs1211644692
gnomAD v2:
7-117251641-G-A
gnomAD v4:
7-117611587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611587G>A , CM000669.2:g.117611587G>A | GRCh38 |
| NC_000007.13:g.117251641G>A , CM000669.1:g.117251641G>A | GRCh37 |
| NC_000007.12:g.117038877G>A | NCBI36 |
| NG_016465.4:g.150804G>A , LRG_663:g.150804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3146G>A | ENSP00000497673.2:p.Ser1049Asn | |
| ENST00000647978.2:c.*2860G>A | ENSP00000497658.1:n.*2860G>A | |
| ENST00000649781.2:c.2963G>A | ENSP00000497203.1:p.Ser988Asn | |
| ENST00000685018.2:c.3146G>A | ENSP00000510194.2:p.Ser1049Asn | |
| ENST00000687278.2:c.3146G>A | ENSP00000509593.2:p.Ser1049Asn | |
| ENST00000699585.1:c.3146G>A | ENSP00000514456.1:p.Ser1049Asn | |
| ENST00000699598.1:c.3146G>A | ENSP00000514467.1:p.Ser1049Asn | |
| ENST00000699599.1:c.3146G>A | ENSP00000514468.1:p.Ser1049Asn | |
| ENST00000699600.1:c.3146G>A | ENSP00000514469.1:p.Ser1049Asn | |
| ENST00000699601.1:c.*1446G>A | ENSP00000514470.1:n.*1446G>A | |
| ENST00000699602.1:c.3146G>A | ENSP00000514471.1:p.Ser1049Asn | |
| ENST00000699604.1:c.*2970G>A | ENSP00000514472.1:n.*2970G>A | |
| ENST00000699605.1:c.2720G>A | ENSP00000514473.1:p.Ser907Asn | |
| ENST00000687278.1:c.737G>A | ENSP00000509593.1:p.Ser246Asn | |
| ENST00000003084.11:c.3146G>A MANE Select | ENSP00000003084.6:p.Ser1049Asn | |
| ENST00000647720.1:c.796G>A | ||
| ENST00000648260.1:c.1928G>A | ENSP00000497957.1:p.Ser643Asn | |
| ENST00000649406.1:c.2963G>A | ENSP00000497965.1:p.Ser988Asn | |
| ENST00000649781.1:c.2963G>A | ENSP00000497203.1:p.Ser988Asn | |
| ENST00000003084.10:c.3146G>A | ENSP00000003084.6:p.Ser1049Asn | |
| ENST00000426809.5:c.3056G>A | ENSP00000389119.1:p.Ser1019Asn | |
| NM_000492.3:c.3146G>A , LRG_663t1:c.3146G>A | NP_000483.3:p.Ser1049Asn | |
| XM_011515751.1:c.3236G>A | XP_011514053.1:p.Ser1079Asn | |
| XM_011515752.1:c.3236G>A | XP_011514054.1:p.Ser1079Asn | |
| XM_011515753.1:c.2903G>A | XP_011514055.1:p.Ser968Asn | |
| XM_011515754.1:c.2903G>A | XP_011514056.1:p.Ser968Asn | |
| NM_000492.4:c.3146G>A MANE Select | NP_000483.3:p.Ser1049Asn |