Linked Data
ClinVar Variation Id:
554491
ClinVar RCV Id:
RCV000670134
dbSNP Id:
rs371407903
ExAC:
17:7124982 C / G
gnomAD v2:
17-7124982-C-G
gnomAD v3:
17-7221663-C-G
gnomAD v4:
17-7221663-C-G
ERepo:
CA8337766/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221663C>G , CM000679.2:g.7221663C>G | GRCh38 |
| NC_000017.10:g.7124982C>G , CM000679.1:g.7124982C>G | GRCh37 |
| NC_000017.9:g.7065706C>G | NCBI36 |
| NG_007975.1:g.6830C>G | |
| NG_008391.2:g.3388G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.603C>G MANE Select | ENSP00000349297.5:p.Tyr201Ter | |
| ENST00000322910.9:c.*558C>G | ENSP00000325395.5:n.*558C>G | |
| ENST00000350303.9:c.537C>G | ENSP00000344152.5:p.Tyr179Ter | |
| ENST00000356839.9:c.603C>G | ENSP00000349297.5:p.Tyr201Ter | |
| ENST00000543245.6:c.672C>G | ENSP00000438689.2:p.Tyr224Ter | |
| ENST00000577191.5:n.680C>G | ||
| ENST00000577857.5:n.419C>G | ||
| ENST00000579286.5:n.784C>G | ||
| ENST00000579886.2:c.441C>G | ENSP00000463246.1:p.Tyr147Ter | |
| ENST00000580365.1:n.334C>G | ||
| ENST00000581378.5:c.321C>G | ||
| ENST00000581562.5:n.525-289C>G | ||
| ENST00000583312.5:c.603C>G | ENSP00000467920.1:p.Tyr201Ter | |
| ENST00000583760.1:n.385C>G | ||
| NM_000018.3:c.603C>G | NP_000009.1:p.Tyr201Ter | |
| NM_001033859.2:c.537C>G | NP_001029031.1:p.Tyr179Ter | |
| NM_001270447.1:c.672C>G | NP_001257376.1:p.Tyr224Ter | |
| NM_001270448.1:c.375C>G | NP_001257377.1:p.Tyr125Ter | |
| XM_006721516.2:c.603C>G | XP_006721579.2:p.Tyr201Ter | |
| XM_011523829.1:c.603C>G | XP_011522131.1:p.Tyr201Ter | |
| XM_011523830.1:c.603C>G | XP_011522132.1:p.Tyr201Ter | |
| XR_934021.1:n.710C>G | ||
| XR_934022.1:n.710C>G | ||
| XR_934023.1:n.710C>G | ||
| XM_006721516.3:c.603C>G | XP_006721579.2:p.Tyr201Ter | |
| XM_011523829.2:c.603C>G | XP_011522131.1:p.Tyr201Ter | |
| XM_011523830.2:c.603C>G | XP_011522132.1:p.Tyr201Ter | |
| XM_024450741.1:c.603C>G | XP_024306509.1:p.Tyr201Ter | |
| XR_934021.2:n.662C>G | ||
| XR_934022.2:n.662C>G | ||
| XR_934023.2:n.662C>G | ||
| NM_000018.4:c.603C>G MANE Select | NP_000009.1:p.Tyr201Ter | |
| NM_001033859.3:c.537C>G | NP_001029031.1:p.Tyr179Ter | |
| NM_001270447.2:c.672C>G | NP_001257376.1:p.Tyr224Ter | |
| NM_001270448.2:c.375C>G | NP_001257377.1:p.Tyr125Ter |