Linked Data
dbSNP Id:
rs776160115
ExAC:
2:163291997 T / C
gnomAD v2:
2-163291997-T-C
gnomAD v4:
2-162435487-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162435487T>C , CM000664.2:g.162435487T>C | GRCh38 |
| NC_000002.11:g.163291997T>C , CM000664.1:g.163291997T>C | GRCh37 |
| NC_000002.10:g.163000243T>C | NCBI36 |
| NG_041938.1:g.408261A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332142.10:c.1665A>G MANE Select | ENSP00000331727.5:p.Leu555= | |
| ENST00000328032.8:c.1644A>G | ENSP00000333781.4:p.Leu548= | |
| ENST00000332142.9:c.1665A>G | ENSP00000331727.5:p.Leu555= | |
| ENST00000618399.4:c.1365A>G | ENSP00000482818.1:p.Leu455= | |
| ENST00000621889.1:c.1338A>G | ENSP00000483158.1:p.Leu446= | |
| NM_033272.3:c.1665A>G | NP_150375.2:p.Leu555= | |
| NM_173162.2:c.1644A>G | NP_775185.1:p.Leu548= | |
| XM_011512109.1:c.1689A>G | XP_011510411.1:p.Leu563= | |
| XM_011512109.3:c.1689A>G | XP_011510411.1:p.Leu563= | |
| XM_017005218.2:c.1689A>G | XP_016860707.1:p.Leu563= | |
| XM_017005219.2:c.1665A>G | XP_016860708.1:p.Leu555= | |
| XM_017005220.2:c.1644A>G | XP_016860709.1:p.Leu548= | |
| XM_017005221.2:c.1689A>G | XP_016860710.1:p.Leu563= | |
| NM_033272.4:c.1665A>G MANE Select | NP_150375.2:p.Leu555= | |
| NM_173162.3:c.1644A>G | NP_775185.1:p.Leu548= |