Linked Data
dbSNP Id:
rs541647294
ExAC:
17:4858734 G / T
gnomAD v2:
17-4858734-G-T
gnomAD v3:
17-4955439-G-T
gnomAD v4:
17-4955439-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955439G>T , CM000679.2:g.4955439G>T | GRCh38 |
| NC_000017.10:g.4858734G>T , CM000679.1:g.4858734G>T | GRCh37 |
| NC_000017.9:g.4799480G>T | NCBI36 |
| NG_012063.2:g.14349G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.700G>T MANE Select | ENSP00000430055.2:p.Ala234Ser | |
| ENST00000323997.10:c.700G>T | ENSP00000324105.6:p.Ala234Ser | |
| ENST00000518175.1:c.700G>T | ENSP00000431087.1:p.Ala234Ser | |
| ENST00000519584.5:c.571G>T | ENSP00000430636.1:p.Ala191Ser | |
| ENST00000519602.5:c.700G>T | ENSP00000430055.1:p.Ala234Ser | |
| ENST00000521659.5:c.*646G>T | ENSP00000430554.1:n.*646G>T | |
| NM_001193503.1:c.571G>T | NP_001180432.1:p.Ala191Ser | |
| NM_001976.4:c.700G>T | NP_001967.3:p.Ala234Ser | |
| NM_053013.3:c.700G>T | NP_443739.3:p.Ala234Ser | |
| XM_005256521.2:c.727G>T | XP_005256578.1:p.Ala243Ser | |
| XM_011523729.1:c.700G>T | XP_011522031.1:p.Ala234Ser | |
| XM_017024346.2:c.700G>T | XP_016879835.1:p.Ala234Ser | |
| NM_001193503.2:c.571G>T | NP_001180432.1:p.Ala191Ser | |
| NM_001374523.1:c.700G>T | NP_001361452.1:p.Ala234Ser | |
| NM_001374524.1:c.727G>T | NP_001361453.1:p.Ala243Ser | |
| NM_001976.5:c.700G>T | NP_001967.3:p.Ala234Ser | |
| NM_053013.4:c.700G>T MANE Select | NP_443739.3:p.Ala234Ser |