Linked Data
dbSNP Id:
rs199715844
gnomAD v2:
1-209791261-C-A
gnomAD v3:
1-209617916-C-A
gnomAD v4:
1-209617916-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209617916C>A , CM000663.2:g.209617916C>A | GRCh38 |
| NC_000001.10:g.209791261C>A , CM000663.1:g.209791261C>A | GRCh37 |
| NC_000001.9:g.207857884C>A | NCBI36 |
| NG_007116.1:g.39560G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.3042G>T MANE Select | ENSP00000348384.3:p.Arg1014Ser | |
| ENST00000356082.8:c.3042G>T | ENSP00000348384.3:p.Arg1014Ser | |
| ENST00000367030.7:c.3042G>T | ENSP00000355997.3:p.Arg1014Ser | |
| ENST00000391911.5:c.3042G>T | ENSP00000375778.1:p.Arg1014Ser | |
| ENST00000455193.1:c.249G>T | ENSP00000398683.1:p.Arg83Ser | |
| NM_000228.2:c.3042G>T | NP_000219.2:p.Arg1014Ser | |
| NM_001017402.1:c.3042G>T | NP_001017402.1:p.Arg1014Ser | |
| NM_001127641.1:c.3042G>T | NP_001121113.1:p.Arg1014Ser | |
| XM_005273124.3:c.3042G>T | XP_005273181.1:p.Arg1014Ser | |
| XM_005273124.4:c.3042G>T | XP_005273181.1:p.Arg1014Ser | |
| XM_017001272.2:c.2850G>T | XP_016856761.1:p.Arg950Ser | |
| NM_000228.3:c.3042G>T MANE Select | NP_000219.2:p.Arg1014Ser | |
| NM_001017402.2:c.3042G>T | NP_001017402.1:p.Arg1014Ser |