Linked Data
dbSNP Id:
rs749768625
ExAC:
17:7127853 C / T
gnomAD v2:
17-7127853-C-T
gnomAD v4:
17-7224534-C-T
MyVariant Identifiers:
chr17:g.7127853C>T (hg19)
chr17:g.7127853_7127865delinsTACAAGAAGGGGA (hg19)
chr17:g.7224534C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224534C>T , CM000679.2:g.7224534C>T | GRCh38 |
| NC_000017.10:g.7127853C>T , CM000679.1:g.7127853C>T | GRCh37 |
| NC_000017.9:g.7068577C>T | NCBI36 |
| NG_007975.1:g.9701C>T | |
| NG_008391.2:g.517G>A | |
| NG_033038.1:g.15011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1660C>T MANE Select | ENSP00000349297.5:p.His554Tyr | |
| ENST00000322910.9:c.*1615C>T | ENSP00000325395.5:n.*1615C>T | |
| ENST00000350303.9:c.1594C>T | ENSP00000344152.5:p.His532Tyr | |
| ENST00000356839.9:c.1660C>T | ENSP00000349297.5:p.His554Tyr | |
| ENST00000542255.6:c.518C>T | ||
| ENST00000543245.6:c.1729C>T | ENSP00000438689.2:p.His577Tyr | |
| ENST00000578319.5:n.241C>T | ||
| ENST00000578711.1:n.1030C>T | ||
| ENST00000578809.5:n.232C>T | ||
| ENST00000579391.1:n.264C>T | ||
| ENST00000579425.5:n.776C>T | ||
| ENST00000579546.1:c.395C>T | ||
| ENST00000582450.1:n.168C>T | ||
| ENST00000583074.5:n.281C>T | ||
| ENST00000583848.5:c.46C>T | ENSP00000466487.1:p.His16Tyr | |
| ENST00000583850.5:n.431C>T | ||
| ENST00000583858.5:c.591C>T | ||
| ENST00000585203.6:n.851C>T | ||
| NM_000018.3:c.1660C>T | NP_000009.1:p.His554Tyr | |
| NM_001033859.2:c.1594C>T | NP_001029031.1:p.His532Tyr | |
| NM_001270447.1:c.1729C>T | NP_001257376.1:p.His577Tyr | |
| NM_001270448.1:c.1432C>T | NP_001257377.1:p.His478Tyr | |
| XM_006721516.2:c.1660C>T | XP_006721579.2:p.His554Tyr | |
| XM_011523829.1:c.1558C>T | XP_011522131.1:p.His520Tyr | |
| XM_011523830.1:c.1558C>T | XP_011522132.1:p.His520Tyr | |
| XR_934021.1:n.1763C>T | ||
| XR_934022.1:n.1669C>T | ||
| XR_934023.1:n.1669C>T | ||
| XM_006721516.3:c.1660C>T | XP_006721579.2:p.His554Tyr | |
| XM_011523829.2:c.1558C>T | XP_011522131.1:p.His520Tyr | |
| XM_011523830.2:c.1558C>T | XP_011522132.1:p.His520Tyr | |
| XM_024450741.1:c.1648C>T | XP_024306509.1:p.His550Tyr | |
| XR_934021.2:n.1715C>T | ||
| XR_934022.2:n.1621C>T | ||
| XR_934023.2:n.1621C>T | ||
| NM_000018.4:c.1660C>T MANE Select | NP_000009.1:p.His554Tyr | |
| NM_001033859.3:c.1594C>T | NP_001029031.1:p.His532Tyr | |
| NM_001270447.2:c.1729C>T | NP_001257376.1:p.His577Tyr | |
| NM_001270448.2:c.1432C>T | NP_001257377.1:p.His478Tyr |