Linked Data
dbSNP Id:
rs770021561
ExAC:
9:27173340 A / G
gnomAD v2:
9-27173340-A-G
gnomAD v3:
9-27173342-A-G
gnomAD v4:
9-27173342-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27173342A>G , CM000671.2:g.27173342A>G | GRCh38 |
| NC_000009.11:g.27173340A>G , CM000671.1:g.27173340A>G | GRCh37 |
| NC_000009.10:g.27163340A>G | NCBI36 |
| NG_011828.1:g.69194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.881A>G MANE Select | ENSP00000369375.4:p.Lys294Arg | |
| ENST00000380036.8:c.881A>G | ENSP00000369375.4:p.Lys294Arg | |
| ENST00000406359.8:c.881A>G | ENSP00000383977.4:p.Lys294Arg | |
| ENST00000519080.1:c.440A>G | ENSP00000428337.1:p.Lys147Arg | |
| ENST00000519097.5:c.569A>G | ENSP00000430686.1:p.Lys190Arg | |
| ENST00000615002.4:c.881A>G | ENSP00000480251.1:p.Lys294Arg | |
| NM_000459.4:c.881A>G | NP_000450.2:p.Lys294Arg | |
| NM_001290077.1:c.881A>G | NP_001277006.1:p.Lys294Arg | |
| NM_001290078.1:c.569A>G | NP_001277007.1:p.Lys190Arg | |
| XM_005251561.1:c.881A>G | XP_005251618.1:p.Lys294Arg | |
| XM_005251563.1:c.881A>G | XP_005251620.1:p.Lys294Arg | |
| XM_005251561.2:c.881A>G | XP_005251618.1:p.Lys294Arg | |
| XM_005251563.2:c.881A>G | XP_005251620.1:p.Lys294Arg | |
| NM_000459.5:c.881A>G MANE Select | NP_000450.3:p.Lys294Arg | |
| NM_001375475.1:c.881A>G | NP_001362404.1:p.Lys294Arg | |
| NM_001375476.1:c.881A>G | NP_001362405.1:p.Lys294Arg |