Linked Data
dbSNP Id:
rs777807674
ExAC:
1:202566091 T / G
gnomAD v2:
1-202566091-T-G
gnomAD v3:
1-202596963-T-G
gnomAD v4:
1-202596963-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596963T>G , CM000663.2:g.202596963T>G | GRCh38 |
| NC_000001.10:g.202566091T>G , CM000663.1:g.202566091T>G | GRCh37 |
| NC_000001.9:g.200832714T>G | NCBI36 |
| NG_041776.1:g.118461A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1054A>C MANE Select | ENSP00000356237.4:p.Lys352Gln | |
| ENST00000367267.5:c.1054A>C | ENSP00000356236.1:p.Lys352Gln | |
| ENST00000367268.4:c.1054A>C | ENSP00000356237.4:p.Lys352Gln | |
| NM_001136504.1:c.1054A>C | NP_001129976.1:p.Lys352Gln | |
| NM_177402.4:c.1054A>C | NP_796376.2:p.Lys352Gln | |
| XM_011509192.1:c.1063A>C | XP_011507494.1:p.Lys355Gln | |
| XM_011509192.2:c.1063A>C | XP_011507494.1:p.Lys355Gln | |
| XM_017000309.2:c.1234A>C | XP_016855798.1:p.Lys412Gln | |
| XM_017000310.2:c.1225A>C | XP_016855799.1:p.Lys409Gln | |
| XM_017000311.2:c.1063A>C | XP_016855800.1:p.Lys355Gln | |
| XM_017000312.1:c.1063A>C | XP_016855801.1:p.Lys355Gln | |
| XM_017000313.1:c.1054A>C | XP_016855802.1:p.Lys352Gln | |
| NM_177402.5:c.1054A>C MANE Select | NP_796376.2:p.Lys352Gln |