Linked Data
dbSNP Id:
rs2032606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833779G>T , CM000686.2:g.12833779G>T | GRCh38 |
| NC_000024.9:g.14945705G>T , CM000686.1:g.14945705G>T | GRCh37 |
| NC_000024.8:g.13455099G>T | NCBI36 |
| NG_008311.1:g.137546G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651177.1:c.5113G>T | ENSP00000498372.1:p.Ala1705Ser | |
| ENST00000338981.7:c.5113G>T MANE Select | ENSP00000342812.3:p.Ala1705Ser | |
| ENST00000426564.6:n.5125G>T | ||
| NM_004654.3:c.5113G>T | NP_004645.2:p.Ala1705Ser | |
| XM_011531469.1:c.5113G>T | XP_011529771.1:p.Ala1705Ser | |
| XM_011531470.1:c.4879G>T | XP_011529772.1:p.Ala1627Ser | |
| XM_017030078.2:c.5128G>T | XP_016885567.1:p.Ala1710Ser | |
| NM_004654.4:c.5113G>T MANE Select | NP_004645.2:p.Ala1705Ser |