Linked Data
dbSNP Id:
rs753557234
ExAC:
2:163291878 A / G
gnomAD v2:
2-163291878-A-G
gnomAD v4:
2-162435368-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162435368A>G , CM000664.2:g.162435368A>G | GRCh38 |
| NC_000002.11:g.163291878A>G , CM000664.1:g.163291878A>G | GRCh37 |
| NC_000002.10:g.163000124A>G | NCBI36 |
| NG_041938.1:g.408380T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332142.10:c.1784T>C MANE Select | ENSP00000331727.5:p.Ile595Thr | |
| ENST00000328032.8:c.1763T>C | ENSP00000333781.4:p.Ile588Thr | |
| ENST00000332142.9:c.1784T>C | ENSP00000331727.5:p.Ile595Thr | |
| ENST00000618399.4:c.1484T>C | ENSP00000482818.1:p.Ile495Thr | |
| ENST00000621889.1:c.1457T>C | ENSP00000483158.1:p.Ile486Thr | |
| NM_033272.3:c.1784T>C | NP_150375.2:p.Ile595Thr | |
| NM_173162.2:c.1763T>C | NP_775185.1:p.Ile588Thr | |
| XM_011512109.1:c.1808T>C | XP_011510411.1:p.Ile603Thr | |
| XM_011512109.3:c.1808T>C | XP_011510411.1:p.Ile603Thr | |
| XM_017005218.2:c.1808T>C | XP_016860707.1:p.Ile603Thr | |
| XM_017005219.2:c.1784T>C | XP_016860708.1:p.Ile595Thr | |
| XM_017005220.2:c.1763T>C | XP_016860709.1:p.Ile588Thr | |
| XM_017005221.2:c.1808T>C | XP_016860710.1:p.Ile603Thr | |
| NM_033272.4:c.1784T>C MANE Select | NP_150375.2:p.Ile595Thr | |
| NM_173162.3:c.1763T>C | NP_775185.1:p.Ile588Thr |