Linked Data
dbSNP Id:
rs749186418
ExAC:
2:169801226 T / G
gnomAD v2:
2-169801226-T-G
gnomAD v4:
2-168944716-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944716T>G , CM000664.2:g.168944716T>G | GRCh38 |
| NC_000002.11:g.169801226T>G , CM000664.1:g.169801226T>G | GRCh37 |
| NC_000002.10:g.169509472T>G | NCBI36 |
| NG_007374.1:g.91608A>C | |
| NG_007374.2:g.91681A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.816A>C | ENSP00000497165.1:p.Lys272Asn | |
| ENST00000650372.1:c.2499A>C MANE Select | ENSP00000497931.1:p.Lys833Asn | |
| ENST00000263817.6:c.2499A>C | ENSP00000263817.6:p.Lys833Asn | |
| ENST00000439188.1:c.1188A>C | ENSP00000416058.1:n.1188A>C | |
| NM_003742.2:c.2499A>C | NP_003733.2:p.Lys833Asn | |
| XM_006712817.2:c.2541A>C | XP_006712880.1:p.Lys847Asn | |
| XM_011512077.1:c.2601A>C | XP_011510379.1:p.Lys867Asn | |
| XM_011512078.1:c.2601A>C | XP_011510380.1:p.Lys867Asn | |
| XM_011512079.1:c.2601A>C | XP_011510381.1:p.Lys867Asn | |
| XM_011512080.1:c.2601A>C | XP_011510382.1:p.Lys867Asn | |
| XM_011512081.1:c.825A>C | XP_011510383.1:p.Lys275Asn | |
| NM_003742.4:c.2499A>C MANE Select | NP_003733.2:p.Lys833Asn | |
| XM_006712817.3:c.2541A>C | XP_006712880.1:p.Lys847Asn | |
| XM_011512077.2:c.2601A>C | XP_011510379.1:p.Lys867Asn | |
| XM_011512078.2:c.2601A>C | XP_011510380.1:p.Lys867Asn | |
| XM_011512080.2:c.2601A>C | XP_011510382.1:p.Lys867Asn | |
| XM_011512081.2:c.825A>C | XP_011510383.1:p.Lys275Asn | |
| XM_017005165.1:c.2601A>C | XP_016860654.1:p.Lys867Asn | |
| XM_017005166.1:c.1830A>C | XP_016860655.1:p.Lys610Asn | |
| XM_017005167.1:c.1284A>C | XP_016860656.1:p.Lys428Asn |