Linked Data
ClinVar Variation Id:
534188
dbSNP Id:
rs199724772
ExAC:
10:102568941 C / G
gnomAD v2:
10-102568941-C-G
gnomAD v3:
10-100809184-C-G
gnomAD v4:
10-100809184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100809184C>G , CM000672.2:g.100809184C>G | GRCh38 |
| NC_000010.10:g.102568941C>G , CM000672.1:g.102568941C>G | GRCh37 |
| NC_000010.9:g.102558931C>G | NCBI36 |
| NG_008680.1:g.68474C>G | |
| NG_008680.2:g.78476C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707078.1:c.960C>G | ENSP00000516729.1:p.Asn320Lys | |
| ENST00000707079.1:c.936C>G | ENSP00000516730.1:p.Asn312Lys | |
| ENST00000355243.8:c.867C>G MANE Select | ENSP00000347385.3:p.Asn289Lys | |
| ENST00000427256.6:c.867C>G | ENSP00000398652.2:p.Asn289Lys | |
| ENST00000679374.1:c.849C>G | ENSP00000506041.1:p.Asn283Lys | |
| ENST00000355243.7:c.867C>G | ENSP00000347385.2:p.Asn289Lys | |
| ENST00000361791.7:c.864C>G | ENSP00000355069.4:p.Asn288Lys | |
| ENST00000370296.6:c.867C>G | ENSP00000359319.3:p.Asn289Lys | |
| ENST00000428433.5:c.936C>G | ENSP00000396259.1:p.Asn312Lys | |
| ENST00000554172.2:c.855C>G | ENSP00000452489.2:p.Asn285Lys | |
| ENST00000554363.2:n.582C>G | ||
| NM_000278.3:c.867C>G | NP_000269.2:p.Asn289Lys | |
| NM_001304569.1:c.960C>G | NP_001291498.1:p.Asn320Lys | |
| NM_003987.3:c.936C>G | NP_003978.2:p.Asn312Lys | |
| NM_003988.3:c.867C>G | NP_003979.2:p.Asn289Lys | |
| NM_003989.3:c.867C>G | NP_003980.2:p.Asn289Lys | |
| NM_003990.3:c.936C>G | NP_003981.2:p.Asn312Lys | |
| NM_000278.4:c.867C>G | NP_000269.3:p.Asn289Lys | |
| NM_003987.4:c.936C>G | NP_003978.3:p.Asn312Lys | |
| NM_003988.4:c.867C>G | NP_003979.2:p.Asn289Lys | |
| NM_003989.4:c.867C>G | NP_003980.3:p.Asn289Lys | |
| NM_003990.4:c.936C>G | NP_003981.3:p.Asn312Lys | |
| NM_000278.5:c.867C>G MANE Select | NP_000269.3:p.Asn289Lys | |
| NM_001304569.2:c.960C>G | NP_001291498.1:p.Asn320Lys | |
| NM_003987.5:c.936C>G | NP_003978.3:p.Asn312Lys | |
| NM_003988.5:c.867C>G | NP_003979.2:p.Asn289Lys | |
| NM_003989.5:c.867C>G | NP_003980.3:p.Asn289Lys | |
| NM_003990.5:c.936C>G | NP_003981.3:p.Asn312Lys |