Linked Data
dbSNP Id:
rs542709547
ExAC:
7:2579512 T / G
gnomAD v2:
7-2579512-T-G
gnomAD v3:
7-2539878-T-G
gnomAD v4:
7-2539878-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2539878T>G , CM000669.2:g.2539878T>G | GRCh38 |
| NC_000007.13:g.2579512T>G , CM000669.1:g.2579512T>G | GRCh37 |
| NC_000007.12:g.2546038T>G | NCBI36 |
| NG_032167.1:g.20881A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.1406A>C MANE Select | ENSP00000339637.4:p.Lys469Thr | |
| ENST00000340611.8:c.1406A>C | ENSP00000339637.4:p.Lys469Thr | |
| ENST00000467558.5:n.2778A>C | ||
| ENST00000469750.5:n.3978A>C | ||
| ENST00000473879.1:n.122A>C | ||
| ENST00000493232.5:n.4142A>C | ||
| NM_152743.3:c.1406A>C | NP_689956.2:p.Lys469Thr | |
| XM_005249643.3:c.1406A>C | XP_005249700.1:p.Lys469Thr | |
| XM_011515177.1:c.1490A>C | XP_011513479.1:p.Lys497Thr | |
| XM_011515178.1:c.1490A>C | XP_011513480.1:p.Lys497Thr | |
| XM_011515179.1:c.1487A>C | XP_011513481.1:p.Lys496Thr | |
| XM_011515180.1:c.1460A>C | XP_011513482.1:p.Lys487Thr | |
| XM_011515181.1:c.1490A>C | XP_011513483.1:p.Lys497Thr | |
| XM_011515182.1:c.1490A>C | XP_011513484.1:p.Lys497Thr | |
| XM_011515183.1:c.965A>C | XP_011513485.1:p.Lys322Thr | |
| XM_011515184.1:c.965A>C | XP_011513486.1:p.Lys322Thr | |
| XM_011515185.1:c.1406A>C | XP_011513487.1:p.Lys469Thr | |
| XM_011515186.1:c.1490A>C | XP_011513488.1:p.Lys497Thr | |
| XM_011515187.1:c.62A>C | XP_011513489.1:p.Lys21Thr | |
| NM_001350626.1:c.1406A>C | NP_001337555.1:p.Lys469Thr | |
| NM_001350627.1:c.881A>C | NP_001337556.1:p.Lys294Thr | |
| NR_146879.1:n.1823A>C | ||
| XM_011515177.2:c.1490A>C | XP_011513479.1:p.Lys497Thr | |
| XM_011515179.2:c.1487A>C | XP_011513481.1:p.Lys496Thr | |
| XM_011515181.2:c.1490A>C | XP_011513483.1:p.Lys497Thr | |
| XM_011515182.2:c.1490A>C | XP_011513484.1:p.Lys497Thr | |
| XM_011515184.3:c.965A>C | XP_011513486.1:p.Lys322Thr | |
| XM_011515186.2:c.1490A>C | XP_011513488.1:p.Lys497Thr | |
| XM_017011833.1:c.1403A>C | XP_016867322.1:p.Lys468Thr | |
| XM_017011834.1:c.1403A>C | XP_016867323.1:p.Lys468Thr | |
| XM_017011836.2:c.1406A>C | XP_016867325.1:p.Lys469Thr | |
| XM_024446682.1:c.62A>C | XP_024302450.1:p.Lys21Thr | |
| NM_152743.4:c.1406A>C MANE Select | NP_689956.2:p.Lys469Thr | |
| NM_001350626.2:c.1406A>C | NP_001337555.1:p.Lys469Thr | |
| NM_001350627.2:c.881A>C | NP_001337556.1:p.Lys294Thr | |
| NR_146879.2:n.1589A>C |