Linked Data
dbSNP Id:
rs1297911645
gnomAD v2:
2-163291851-G-C
gnomAD v3:
2-162435341-G-C
gnomAD v4:
2-162435341-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162435341G>C , CM000664.2:g.162435341G>C | GRCh38 |
| NC_000002.11:g.163291851G>C , CM000664.1:g.163291851G>C | GRCh37 |
| NC_000002.10:g.163000097G>C | NCBI36 |
| NG_041938.1:g.408407C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332142.10:c.1811C>G MANE Select | ENSP00000331727.5:p.Ser604Ter | |
| ENST00000328032.8:c.1790C>G | ENSP00000333781.4:p.Ser597Ter | |
| ENST00000332142.9:c.1811C>G | ENSP00000331727.5:p.Ser604Ter | |
| ENST00000618399.4:c.1511C>G | ENSP00000482818.1:p.Ser504Ter | |
| ENST00000621889.1:c.1484C>G | ENSP00000483158.1:p.Ser495Ter | |
| NM_033272.3:c.1811C>G | NP_150375.2:p.Ser604Ter | |
| NM_173162.2:c.1790C>G | NP_775185.1:p.Ser597Ter | |
| XM_011512109.1:c.1835C>G | XP_011510411.1:p.Ser612Ter | |
| XM_011512109.3:c.1835C>G | XP_011510411.1:p.Ser612Ter | |
| XM_017005218.2:c.1835C>G | XP_016860707.1:p.Ser612Ter | |
| XM_017005219.2:c.1811C>G | XP_016860708.1:p.Ser604Ter | |
| XM_017005220.2:c.1790C>G | XP_016860709.1:p.Ser597Ter | |
| XM_017005221.2:c.1835C>G | XP_016860710.1:p.Ser612Ter | |
| NM_033272.4:c.1811C>G MANE Select | NP_150375.2:p.Ser604Ter | |
| NM_173162.3:c.1790C>G | NP_775185.1:p.Ser597Ter |