Linked Data
dbSNP Id:
rs781594471
ExAC:
5:10256215 G / A
gnomAD v2:
5-10256215-G-A
gnomAD v3:
5-10256103-G-A
gnomAD v4:
5-10256103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256103G>A , CM000667.2:g.10256103G>A | GRCh38 |
| NC_000005.9:g.10256215G>A , CM000667.1:g.10256215G>A | GRCh37 |
| NC_000005.8:g.10309215G>A | NCBI36 |
| NG_012160.1:g.10934G>A , LRG_361:g.10934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.480G>A MANE Select | ENSP00000280326.4:p.Lys160= | |
| ENST00000280326.8:c.480G>A | ENSP00000280326.4:p.Lys160= | |
| ENST00000423695.6:n.128-2008G>A | ||
| ENST00000503026.5:c.417G>A | ENSP00000423318.1:p.Lys139= | |
| ENST00000503454.5:c.369G>A | ||
| ENST00000506600.1:c.201G>A | ENSP00000423052.1:p.Lys67= | |
| ENST00000511700.1:c.395G>A | ENSP00000423087.1:n.395G>A | |
| ENST00000512975.5:c.106-2008G>A | ENSP00000425751.1:n.106-2008G>A | |
| ENST00000515390.5:c.315G>A | ENSP00000426923.1:p.Lys105= | |
| ENST00000515676.5:c.366G>A | ENSP00000427297.1:p.Lys122= | |
| ENST00000625723.1:c.106-2008G>A | ENSP00000487128.1:n.106-2008G>A | |
| NM_001306153.1:c.417G>A | NP_001293082.1:p.Lys139= | |
| NM_001306154.1:c.315G>A | NP_001293083.1:p.Lys105= | |
| NM_001306155.1:c.201G>A | NP_001293084.1:p.Lys67= | |
| NM_001306156.1:c.366G>A | NP_001293085.1:p.Lys122= | |
| NM_012073.3:c.480G>A , LRG_361t1:c.480G>A | NP_036205.1:p.Lys160= | |
| NM_012073.4:c.480G>A | NP_036205.1:p.Lys160= | |
| NM_012073.5:c.480G>A MANE Select | NP_036205.1:p.Lys160= | |
| NM_001306154.2:c.315G>A | NP_001293083.1:p.Lys105= | |
| NM_001306155.2:c.201G>A | NP_001293084.1:p.Lys67= | |
| NM_001306156.2:c.366G>A | NP_001293085.1:p.Lys122= |