Linked Data
dbSNP Id:
rs766575997
ExAC:
1:53675915 G / A
gnomAD v2:
1-53675915-G-A
gnomAD v4:
1-53210243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210243G>A , CM000663.2:g.53210243G>A | GRCh38 |
| NC_000001.10:g.53675915G>A , CM000663.1:g.53675915G>A | GRCh37 |
| NC_000001.9:g.53448503G>A | NCBI36 |
| NG_008035.1:g.18815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.569G>A MANE Select | ENSP00000360541.3:p.Arg190Lys | |
| ENST00000635862.1:c.569G>A | ENSP00000490867.1:p.Arg190Lys | |
| ENST00000635888.1:c.*555G>A | ENSP00000490042.1:n.*555G>A | |
| ENST00000636239.1:c.*216G>A | ENSP00000490066.1:n.*216G>A | |
| ENST00000636867.1:c.569G>A | ENSP00000489631.1:p.Arg190Lys | |
| ENST00000636891.1:c.569G>A | ENSP00000490399.1:p.Arg190Lys | |
| ENST00000636935.1:c.341-3021G>A | ENSP00000489757.1:n.341-3021G>A | |
| ENST00000637252.1:c.569G>A | ENSP00000490492.1:p.Arg190Lys | |
| ENST00000637726.1:n.2769G>A | ||
| ENST00000638135.1:c.*216G>A | ENSP00000489756.1:n.*216G>A | |
| ENST00000371486.3:c.569G>A | ENSP00000360541.3:p.Arg190Lys | |
| NM_000098.2:c.569G>A | NP_000089.1:p.Arg190Lys | |
| XM_005270484.1:c.569G>A | XP_005270541.1:p.Arg190Lys | |
| NM_001330589.1:c.569G>A | NP_001317518.1:p.Arg190Lys | |
| NM_000098.3:c.569G>A MANE Select | NP_000089.1:p.Arg190Lys | |
| NM_001330589.2:c.569G>A | NP_001317518.1:p.Arg190Lys |